Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene

Parfenenko, M.A.; Dantsev, I.S.; Bochenkov, S.V.; Kuramagomedova, R.G.; Vinogradova, N.V.; Afanaseva, M.P.; Groznova, O.S.; Voinova, V.I.

Авторы: Parfenenko Mariia A., Dantsev Ilya S., Bochenkov Sergei V., Kuramagomedova Rabiat G., Vinogradova Natalia V., Afanaseva Mariiia P., Groznova Olga S., Voinova Victoria Iu
Журнал: Neurogenetics
Том: 26
Год издания: 2025
Издательство: Springer Verlag
Местоположение издательства: Germany
Номер статьи: 4
DOI: 10.1007/s10048-024-00781-9
Аннотация: Autism spectrum disorders are a group of the most common disorders of neuropsychiatric development, characterized bydifficulties in social interaction and adherence to stereotypic behavioral patterns. This group of conditions frequently co-occurs with intellectual disability, epilepsy, attention-deficit hyperactivity disorder, connective tissue disorders and others.Among the most common molecular-genetic causes of autism spectrum disorders are pathogenic variants in the CHD8gene. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellularproliferation and brain development in embryogenesis. 6 children and 1 adult (mother of 1 of the children) and were foundto have clinically significant variants in CHD8 on whole genome sequencing (3 children and 1 adult had likely pathogenicvariants, 3 children– variants of unknown significance). Their phenotype consisted of autism spectrum disorders, develop-mental delay, ataxia, overgrowth and other signs typically observed in patients with pathogenic variants in CHD8, as wellas common comorbidities of autism spectrum disorders, such as attention-deficit hyperactivity disorder and connectivetissue disorders. Additionally, 4 patients had hepatomegaly and 2– hyperbilirubinemia (1 had both) - clinical features havenot been previously associated with pathogenic variants in CHD8. 2 patients also presented with cardiovascular abnormali-ties, primarily arrythmias and, in 1 case, cardiomyopathy– also uncharacteristic of patients with pathogenic variants inCHD8. Further research is required to determine the mechanisms underlying the abovementioned clinical features, whichare likely carried out through complex interactions between CHD8 and other regulatory proteins.
Добавил в систему: Парфененко Мария Алексеевна

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Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 geneстатья

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