Simeunović, Ivana

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orcid::0000-0001-9500-5645
  • Simeunović, Ivana (5)
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Author's Bibliography

Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion

Rakonjac, Marijana; Cuturilo, Goran; Kovačević-Grujičić, Nataša; Simeunović, Ivana; Kostić, Jovana; Stevanović, Milena; Drakulić, Danijela

(MDPI, 2024)

TY  - JOUR
AU  - Rakonjac, Marijana
AU  - Cuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Simeunović, Ivana
AU  - Kostić, Jovana
AU  - Stevanović, Milena
AU  - Drakulić, Danijela
PY  - 2024
UR  - https://www.mdpi.com/2227-9067/11/4/489
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2362
AB  - 22q11.2 deletion syndrome (22q11.2DS), the most frequent microdeletion syndrome in humans, is related to a high risk of developing neurodevelopmental disorders. About 95% of patients with 22q11.2DS have speech and language impairments. Global articulation, story generation, and verbal memory tests were applied to compare articulatory characteristics of speech sounds, spontaneous language abilities, and immediate verbal memory between four groups of Serbian-speaking children: patients with 22q11.2DS, children with clinical presentation of 22q11.2DS that do not have the microdeletion, children with non-syndromic congenital heart defects, and their peers with typical speech–sound development. The obtained results showed that children with this microdeletion have impaired articulation skills and expressive language abilities. However, we did not observe weaker receptive language skills and immediate verbal memory compared to healthy controls. Children with 22q11.2DS should be considered a risk category for the development of speech–sound pathology and expressive language abilities. Since speech intelligibility is an instrument of cognition and adequate peer socialization, and language impairment in school-aged children with 22q11DS might be an indicator of increased risk for later psychotic symptoms, patients with 22q11.2 microdeletion should be included in a program of early stimulation of speech–language development immediately after diagnosis is established.
PB  - MDPI
T2  - Children
T2  - Children
T1  - Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion
IS  - 4
SP  - 489
VL  - 11
DO  - 10.3390/children11040489
ER  - 
@article{
author = "Rakonjac, Marijana and Cuturilo, Goran and Kovačević-Grujičić, Nataša and Simeunović, Ivana and Kostić, Jovana and Stevanović, Milena and Drakulić, Danijela",
year = "2024",
abstract = "22q11.2 deletion syndrome (22q11.2DS), the most frequent microdeletion syndrome in humans, is related to a high risk of developing neurodevelopmental disorders. About 95% of patients with 22q11.2DS have speech and language impairments. Global articulation, story generation, and verbal memory tests were applied to compare articulatory characteristics of speech sounds, spontaneous language abilities, and immediate verbal memory between four groups of Serbian-speaking children: patients with 22q11.2DS, children with clinical presentation of 22q11.2DS that do not have the microdeletion, children with non-syndromic congenital heart defects, and their peers with typical speech–sound development. The obtained results showed that children with this microdeletion have impaired articulation skills and expressive language abilities. However, we did not observe weaker receptive language skills and immediate verbal memory compared to healthy controls. Children with 22q11.2DS should be considered a risk category for the development of speech–sound pathology and expressive language abilities. Since speech intelligibility is an instrument of cognition and adequate peer socialization, and language impairment in school-aged children with 22q11DS might be an indicator of increased risk for later psychotic symptoms, patients with 22q11.2 microdeletion should be included in a program of early stimulation of speech–language development immediately after diagnosis is established.",
publisher = "MDPI",
journal = "Children, Children",
title = "Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion",
number = "4",
pages = "489",
volume = "11",
doi = "10.3390/children11040489"
}
Rakonjac, M., Cuturilo, G., Kovačević-Grujičić, N., Simeunović, I., Kostić, J., Stevanović, M.,& Drakulić, D.. (2024). Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion. in Children
MDPI., 11(4), 489.
https://doi.org/10.3390/children11040489
Rakonjac M, Cuturilo G, Kovačević-Grujičić N, Simeunović I, Kostić J, Stevanović M, Drakulić D. Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion. in Children. 2024;11(4):489.
doi:10.3390/children11040489 .
Rakonjac, Marijana, Cuturilo, Goran, Kovačević-Grujičić, Nataša, Simeunović, Ivana, Kostić, Jovana, Stevanović, Milena, Drakulić, Danijela, "Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion" in Children, 11, no. 4 (2024):489,
https://doi.org/10.3390/children11040489 . .
2

Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia

Simeunović, Ivana; Drakulić, Danijela; Cuturilo, Goran; Kovačević-Grujičić, Nataša; Kostić, Jovana; Stevanović, Milena

(Belgrade : Serbian Neuroscience Society, 2023)

TY  - CONF
AU  - Simeunović, Ivana
AU  - Drakulić, Danijela
AU  - Cuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Kostić, Jovana
AU  - Stevanović, Milena
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2184
AB  - Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD),
intellectual disability (ID), schizophrenia, and bipolar disorder, are caused by
disruption of brain development. They affect approximately 4% of the European
population. However, molecular mechanisms underlying NDDs are still unknown.
One of the syndromes with a high risk for NDDs is 22q11.2 Deletion Syndrome
(22q11.2DS) caused by microdeletion 22q11.2. 22q11.2DS is the most common
microdeletion in humans; approximately, 25% of patients with 22q11.2DS develop
schizophrenia compared to 1% in the general population, while an ID is detected in
approximately 45% of patients and ASD in 14-50% of cases. We analyzed genomic
and clinical findings in our cohort of 35 patients with 22q11.2DS. The majority of
patients have 3 Mb deletion and nine patients have inherited 22q11.2 microdeletion
from their parents. Twenty-one different clinical presentations are revealed in the
cohort with developmental delay detected in about 50% of patients. Approximately
80% of patients have heart malformations, palatal clefts/velopharyngeal insufficiency
was detected in about 30% of them, facial dysmorphism in approximately 80% and
hypocalcemia was seen in about 20% of patients. Here we presented a cohort of
patients with 22q11.2DS which represents a good system for modeling NDDs in vitro.
PB  - Belgrade : Serbian Neuroscience Society
C3  - 8th Congress of the Serbian Neuroscience Society
T1  - Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia
EP  - 98
SP  - 98
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2184
ER  - 
@conference{
author = "Simeunović, Ivana and Drakulić, Danijela and Cuturilo, Goran and Kovačević-Grujičić, Nataša and Kostić, Jovana and Stevanović, Milena",
year = "2023",
abstract = "Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD),
intellectual disability (ID), schizophrenia, and bipolar disorder, are caused by
disruption of brain development. They affect approximately 4% of the European
population. However, molecular mechanisms underlying NDDs are still unknown.
One of the syndromes with a high risk for NDDs is 22q11.2 Deletion Syndrome
(22q11.2DS) caused by microdeletion 22q11.2. 22q11.2DS is the most common
microdeletion in humans; approximately, 25% of patients with 22q11.2DS develop
schizophrenia compared to 1% in the general population, while an ID is detected in
approximately 45% of patients and ASD in 14-50% of cases. We analyzed genomic
and clinical findings in our cohort of 35 patients with 22q11.2DS. The majority of
patients have 3 Mb deletion and nine patients have inherited 22q11.2 microdeletion
from their parents. Twenty-one different clinical presentations are revealed in the
cohort with developmental delay detected in about 50% of patients. Approximately
80% of patients have heart malformations, palatal clefts/velopharyngeal insufficiency
was detected in about 30% of them, facial dysmorphism in approximately 80% and
hypocalcemia was seen in about 20% of patients. Here we presented a cohort of
patients with 22q11.2DS which represents a good system for modeling NDDs in vitro.",
publisher = "Belgrade : Serbian Neuroscience Society",
journal = "8th Congress of the Serbian Neuroscience Society",
title = "Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia",
pages = "98-98",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2184"
}
Simeunović, I., Drakulić, D., Cuturilo, G., Kovačević-Grujičić, N., Kostić, J.,& Stevanović, M.. (2023). Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia. in 8th Congress of the Serbian Neuroscience Society
Belgrade : Serbian Neuroscience Society., 98-98.
https://hdl.handle.net/21.15107/rcub_imagine_2184
Simeunović I, Drakulić D, Cuturilo G, Kovačević-Grujičić N, Kostić J, Stevanović M. Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia. in 8th Congress of the Serbian Neuroscience Society. 2023;:98-98.
https://hdl.handle.net/21.15107/rcub_imagine_2184 .
Simeunović, Ivana, Drakulić, Danijela, Cuturilo, Goran, Kovačević-Grujičić, Nataša, Kostić, Jovana, Stevanović, Milena, "Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia" in 8th Congress of the Serbian Neuroscience Society (2023):98-98,
https://hdl.handle.net/21.15107/rcub_imagine_2184 .

Genomic and clinical findings in patients with 22q11.2 duplication syndrome

Kostić, Jovana; Drakulić, Danijela; Cuturilo, Goran; Kovačević-Grujičić, Nataša; Simeunović, Ivana; Stevanović, Milena

(Belgrade : Serbian Neuroscience Society, 2023)

TY  - CONF
AU  - Kostić, Jovana
AU  - Drakulić, Danijela
AU  - Cuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Simeunović, Ivana
AU  - Stevanović, Milena
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2194
AB  - Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD),
schizophrenia, and intellectual disability, are caused by disruption of early brain
development. NDDs represent important public health challenge in modern societies
with prevalence of about 10 to 15% of all births and the tendency of increasing
worldwide. On the other side, treatments of NDDs are focused on symptoms due to
limited understanding of underlying pathophysiological mechanisms. Individuals with
the 22q11.2 duplication syndrome (22q11.2dup), caused by heterozygous 22q11.2
microduplication, have an elevated risk of developing NDDs. Literature data revealed
that ASD is detected in 14-25% of patients with 22q11.2dup while schizophrenia is
less common in these patients than in the general population, suggesting that
22q11.2dup might be protective against schizophrenia. We investigated genomic and
clinical findings in cohort of 8 patients with 22q11.2dup. The majority of patients
have 3Mb duplication. Five patients have 22q11.2 microduplication inherited from
their parents. Other CNVs or SNVs are detected in 5 out of 8 patients. Common
medical anomalies in our cohort of patients include developmental delay, facial
dysmorphism, heart malformations, anomalies of the skeletal system, and anomalies
affecting the eye. Characterization of a cohort of patients with 22q11.2dup is
important since 22q11.2dup represents a powerful model to get insights into the
molecular mechanisms underlying NDDs.
PB  - Belgrade : Serbian Neuroscience Society
C3  - 8th Congress of the Serbian Neuroscience Society
T1  - Genomic and clinical findings in patients with 22q11.2 duplication syndrome
EP  - 97
SP  - 97
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2194
ER  - 
@conference{
author = "Kostić, Jovana and Drakulić, Danijela and Cuturilo, Goran and Kovačević-Grujičić, Nataša and Simeunović, Ivana and Stevanović, Milena",
year = "2023",
abstract = "Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD),
schizophrenia, and intellectual disability, are caused by disruption of early brain
development. NDDs represent important public health challenge in modern societies
with prevalence of about 10 to 15% of all births and the tendency of increasing
worldwide. On the other side, treatments of NDDs are focused on symptoms due to
limited understanding of underlying pathophysiological mechanisms. Individuals with
the 22q11.2 duplication syndrome (22q11.2dup), caused by heterozygous 22q11.2
microduplication, have an elevated risk of developing NDDs. Literature data revealed
that ASD is detected in 14-25% of patients with 22q11.2dup while schizophrenia is
less common in these patients than in the general population, suggesting that
22q11.2dup might be protective against schizophrenia. We investigated genomic and
clinical findings in cohort of 8 patients with 22q11.2dup. The majority of patients
have 3Mb duplication. Five patients have 22q11.2 microduplication inherited from
their parents. Other CNVs or SNVs are detected in 5 out of 8 patients. Common
medical anomalies in our cohort of patients include developmental delay, facial
dysmorphism, heart malformations, anomalies of the skeletal system, and anomalies
affecting the eye. Characterization of a cohort of patients with 22q11.2dup is
important since 22q11.2dup represents a powerful model to get insights into the
molecular mechanisms underlying NDDs.",
publisher = "Belgrade : Serbian Neuroscience Society",
journal = "8th Congress of the Serbian Neuroscience Society",
title = "Genomic and clinical findings in patients with 22q11.2 duplication syndrome",
pages = "97-97",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2194"
}
Kostić, J., Drakulić, D., Cuturilo, G., Kovačević-Grujičić, N., Simeunović, I.,& Stevanović, M.. (2023). Genomic and clinical findings in patients with 22q11.2 duplication syndrome. in 8th Congress of the Serbian Neuroscience Society
Belgrade : Serbian Neuroscience Society., 97-97.
https://hdl.handle.net/21.15107/rcub_imagine_2194
Kostić J, Drakulić D, Cuturilo G, Kovačević-Grujičić N, Simeunović I, Stevanović M. Genomic and clinical findings in patients with 22q11.2 duplication syndrome. in 8th Congress of the Serbian Neuroscience Society. 2023;:97-97.
https://hdl.handle.net/21.15107/rcub_imagine_2194 .
Kostić, Jovana, Drakulić, Danijela, Cuturilo, Goran, Kovačević-Grujičić, Nataša, Simeunović, Ivana, Stevanović, Milena, "Genomic and clinical findings in patients with 22q11.2 duplication syndrome" in 8th Congress of the Serbian Neuroscience Society (2023):97-97,
https://hdl.handle.net/21.15107/rcub_imagine_2194 .

Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders

Simeunović, Ivana; Čuturilo, Goran; Kovačević-Grujičić, Nataša; Petter, Olena; Perić, Mina; Kostić, Jovana; Harwood J., Adrian; Stevanović, Milena; Drakulić, Danijela

(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)

TY  - CONF
AU  - Simeunović, Ivana
AU  - Čuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Petter, Olena
AU  - Perić, Mina
AU  - Kostić, Jovana
AU  - Harwood J., Adrian
AU  - Stevanović, Milena
AU  - Drakulić, Danijela
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2138
AB  - Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), intellectual disability (ID),schizophrenia, and bipolar disorder, are caused by the alterationsin early brain development. They affect approximately 4% of the European population and represent a high
socio-economic impact and financial burden. Treatments of NDDs are focused on symptoms since molecular mechanisms underlying NDDs are still unknown. One of the syndromes with a high risk for NDDs
is 22q11.2 Deletion Syndrome (22q11.2DS) caused by microdeletion 22q11.2. 22q11.2 microdeletion is
the most common microdeletion in humans; it is one of the strongest known risk factorsfor development
of psychiatric illness and the highest known genetic risk for schizophrenia (approximately, 25% of patients with 22q11.2DS develop schizophrenia compared to 1% in the general population).
Methods: Genomic and clinical findings in 35 patients with 22q11.2DS were analyzed and peripheral
blood mononuclear cells of patients with 22q11.2DS and healthy controls were reprogrammed.
Results: The majority of patients have 3 Mb deletion and nine of them have inherited 22q11.2 microdeletion from parents. Twenty-one different clinical presentations are revealed in the cohort with developmental delay detected in about 50% of patients. iPSCs were generated from four patients with
22q11.2 microdeletion and five healthy controls.
Conclusion: Cohort of patients with 22q11.2DS isform and iPSCs were generated which enable research
of molecular mechanisms underlying NDDs.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders
EP  - 84
SP  - 84
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2138
ER  - 
@conference{
author = "Simeunović, Ivana and Čuturilo, Goran and Kovačević-Grujičić, Nataša and Petter, Olena and Perić, Mina and Kostić, Jovana and Harwood J., Adrian and Stevanović, Milena and Drakulić, Danijela",
year = "2023",
abstract = "Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), intellectual disability (ID),schizophrenia, and bipolar disorder, are caused by the alterationsin early brain development. They affect approximately 4% of the European population and represent a high
socio-economic impact and financial burden. Treatments of NDDs are focused on symptoms since molecular mechanisms underlying NDDs are still unknown. One of the syndromes with a high risk for NDDs
is 22q11.2 Deletion Syndrome (22q11.2DS) caused by microdeletion 22q11.2. 22q11.2 microdeletion is
the most common microdeletion in humans; it is one of the strongest known risk factorsfor development
of psychiatric illness and the highest known genetic risk for schizophrenia (approximately, 25% of patients with 22q11.2DS develop schizophrenia compared to 1% in the general population).
Methods: Genomic and clinical findings in 35 patients with 22q11.2DS were analyzed and peripheral
blood mononuclear cells of patients with 22q11.2DS and healthy controls were reprogrammed.
Results: The majority of patients have 3 Mb deletion and nine of them have inherited 22q11.2 microdeletion from parents. Twenty-one different clinical presentations are revealed in the cohort with developmental delay detected in about 50% of patients. iPSCs were generated from four patients with
22q11.2 microdeletion and five healthy controls.
Conclusion: Cohort of patients with 22q11.2DS isform and iPSCs were generated which enable research
of molecular mechanisms underlying NDDs.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders",
pages = "84-84",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2138"
}
Simeunović, I., Čuturilo, G., Kovačević-Grujičić, N., Petter, O., Perić, M., Kostić, J., Harwood J., A., Stevanović, M.,& Drakulić, D.. (2023). Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 84-84.
https://hdl.handle.net/21.15107/rcub_imagine_2138
Simeunović I, Čuturilo G, Kovačević-Grujičić N, Petter O, Perić M, Kostić J, Harwood J. A, Stevanović M, Drakulić D. Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:84-84.
https://hdl.handle.net/21.15107/rcub_imagine_2138 .
Simeunović, Ivana, Čuturilo, Goran, Kovačević-Grujičić, Nataša, Petter, Olena, Perić, Mina, Kostić, Jovana, Harwood J., Adrian, Stevanović, Milena, Drakulić, Danijela, "Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):84-84,
https://hdl.handle.net/21.15107/rcub_imagine_2138 .

Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders

Kostić, Jovana; Drakulić, Danijela; Čuturilo, Goran; Petter, Olena; Perić, Mina; Simeunović, Ivana; Harwood J., Adrian; Stevanović, Milena; Kovačević-Grujičić, Nataša

(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)

TY  - CONF
AU  - Kostić, Jovana
AU  - Drakulić, Danijela
AU  - Čuturilo, Goran
AU  - Petter, Olena
AU  - Perić, Mina
AU  - Simeunović, Ivana
AU  - Harwood J., Adrian
AU  - Stevanović, Milena
AU  - Kovačević-Grujičić, Nataša
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2122
AB  - Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), schizophrenia, and intellectual disability, represent important public health challenge in modern societies
with a prevalence of about 10 to 15% of all births and the tendency of increasing worldwide. They are
caused by disruption of early brain development. Treatments of NDDs are focused on symptoms due to
a limited understanding of underlying pathophysiological mechanisms. Individuals with the 22q11.2
Duplication Syndrome (22q11.2dup), caused by heterozygous 22q11.2 microduplication, have an elevated risk of developing NDDs. Literature data revealed that ASD is detected in 14-25% of patients with
22q11.2dup while schizophrenia is less common in these patients than in the general population, suggesting that 22q11.2 duplication might be protective against schizophrenia.
Methods: Genomic and clinical findingsin patients with 22q11.2dup were analyzed and peripheral blood
mononuclear cells of patients with 22q11.2dup were reprogrammed.
Results: We formed a cohort of 8 patients with 22q11.2dup. The majority of patientsin our cohort have
microduplication of approximately 3Mb (80%). Also, the majority of them are familial cases and in 67%
of cases, the 22q11.2 microduplication is inherited from the mother. Congenital heart defects were detected in 25% of our patients, while all tested patients have facial dysmorphism. iPSCs were generated
from three patients with a familial form of 22q11.2dup and their mothers.
Conclusion: A cohort of patients with 22q11.2dup is formed and iPSCs were generated which can be
used as a model system for studying NDDs.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders
EP  - 66
SP  - 66
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2122
ER  - 
@conference{
author = "Kostić, Jovana and Drakulić, Danijela and Čuturilo, Goran and Petter, Olena and Perić, Mina and Simeunović, Ivana and Harwood J., Adrian and Stevanović, Milena and Kovačević-Grujičić, Nataša",
year = "2023",
abstract = "Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), schizophrenia, and intellectual disability, represent important public health challenge in modern societies
with a prevalence of about 10 to 15% of all births and the tendency of increasing worldwide. They are
caused by disruption of early brain development. Treatments of NDDs are focused on symptoms due to
a limited understanding of underlying pathophysiological mechanisms. Individuals with the 22q11.2
Duplication Syndrome (22q11.2dup), caused by heterozygous 22q11.2 microduplication, have an elevated risk of developing NDDs. Literature data revealed that ASD is detected in 14-25% of patients with
22q11.2dup while schizophrenia is less common in these patients than in the general population, suggesting that 22q11.2 duplication might be protective against schizophrenia.
Methods: Genomic and clinical findingsin patients with 22q11.2dup were analyzed and peripheral blood
mononuclear cells of patients with 22q11.2dup were reprogrammed.
Results: We formed a cohort of 8 patients with 22q11.2dup. The majority of patientsin our cohort have
microduplication of approximately 3Mb (80%). Also, the majority of them are familial cases and in 67%
of cases, the 22q11.2 microduplication is inherited from the mother. Congenital heart defects were detected in 25% of our patients, while all tested patients have facial dysmorphism. iPSCs were generated
from three patients with a familial form of 22q11.2dup and their mothers.
Conclusion: A cohort of patients with 22q11.2dup is formed and iPSCs were generated which can be
used as a model system for studying NDDs.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders",
pages = "66-66",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2122"
}
Kostić, J., Drakulić, D., Čuturilo, G., Petter, O., Perić, M., Simeunović, I., Harwood J., A., Stevanović, M.,& Kovačević-Grujičić, N.. (2023). Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 66-66.
https://hdl.handle.net/21.15107/rcub_imagine_2122
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