Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability and autism spectrum disorder
https://doi.org/10.25557/2073-7998.2020.11.47-53
Abstract
Helsmoortel-van der Aa syndrome (OMIM # 615873) is an autosomal dominant mental retardation 28 type, which is characterized by dysmorphic craniofacial features, impaired behavior and autism spectrum disorders. The development of a rare syndrome is associated with mutations in the ADNP gene. The clinical case is presented in patient with a development delay (psychomotor and speech), characteristic facial dysmorphia, impaired behavior and a detected mutation in the ADNP gene. Previously undescribed variant of the nucleotide sequence in the ADNP gene (p.Ala1017fs) was detected by targeted exome sequencing. Heterozygous mutations in the ADNP gene have been described in patients with Helsmoortel-van der Aa syndrome (MIM: # 615873). Mutations in the ADNP gene can be a genetic cause of autism spectrum disorders in 0,17% of patients. It is advisable to take into account that the ADNP gene is one of the key genes for embryonic neurodevelopment when interpreting NGS data in patients with epileptic encephalopathy, autism spectrum disorder and characteristic facial dysmorphia.
About the Authors
T. V. Kozhanova
St. Luka’s Clinical Research Center for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
S. S. Zhilina
St. Luka’s Clinical Research Center for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
T. I. Meshheryakova
St. Luka’s Clinical Research Center for Children
Russian Federation
Russian Federation
E. G. Lukyanova
St. Luka’s Clinical Research Center for Children
Russian Federation
Russian Federation
K. V. Osipova
St. Luka’s Clinical Research Center for Children
Russian Federation
Russian Federation
S. O. Ayvazyan
St. Luka’s Clinical Research Center for Children
Russian Federation
Russian Federation
N. N. Zavadenko
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
A. G. Prityko
St. Luka’s Clinical Research Center for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
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Review
For citations:
Kozhanova T.V., Zhilina S.S., Meshheryakova T.I., Lukyanova E.G., Osipova K.V., Ayvazyan S.O., Zavadenko N.N., Prityko A.G. Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability and autism spectrum disorder. Medical Genetics. 2020;19(11):47-53. (In Russ.) https://doi.org/10.25557/2073-7998.2020.11.47-53
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