Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia
Authors
Simeunović, IvanaDrakulić, Danijela
Cuturilo, Goran
Kovačević-Grujičić, Nataša
Kostić, Jovana
Stevanović, Milena
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Copyright © 2023 by Serbian Neuroscience Society and associates
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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 de...tected 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.
Source:
8th Congress of the Serbian Neuroscience Society, 2023, 98-98Publisher:
- Belgrade : Serbian Neuroscience Society
Funding / projects:
- European Union`s Horizon Europe programme (Grant Agreement Number 101060201 (STREAMLINE)
- Ministry of Science, Technological Development and Innovation of the Republic of Serbia, institutional funding - 200042 (University of Belgrade, Institute of Molecular Genetics and Genetic Engineering) (RS-MESTD-inst-2020-200042)
- Serbian Academy of Sciences and Arts (Grant numberF-172)
Note:
- BOOK OF ABSTRACTS: 8th CONGRESS OF SERBIAN NEUROSCIENCE SOCIETY with international participation 31 May – 2 June 2023. Belgrade, Serbia
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Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 .