Genomic and clinical findings in patients with 22q11.2 duplication syndrome
Аутори
Kostić, JovanaDrakulić, Danijela
Cuturilo, Goran
Kovačević-Grujičić, Nataša
Simeunović, Ivana
Stevanović, Milena
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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 du...plication. 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.
Извор:
8th Congress of the Serbian Neuroscience Society, 2023, 97-97Издавач:
- Belgrade : Serbian Neuroscience Society
Финансирање / пројекти:
- This research was funded by European Union`s Horizon Europe programme (Grant Agreement Number 101060201 (STREAMLINE))
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200042 (Универзитет у Београду, Институт за молекуларну генетику и генетичко инжењерство) (RS-MESTD-inst-2020-200042)
- Serbian Academy of Sciences and Arts (Grant number F-172).
Напомена:
- BOOK OF ABSTRACTS: 8th CONGRESS OF SERBIAN NEUROSCIENCE SOCIETY with international participation 31 May – 2 June 2023. Belgrade, Serbia
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 .