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Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

https://doi.org/10.17749/2077-8333.2020.12.1.59-66

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Abstract

Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation. We present a rare clinical case of a delay in psychomotor and speech development, specific facial dysmorphia, impaired behavior, and a detected mutation in the ADNP gene. When conducting targeted exomic sequencing, we revealed a previously undescribed variant of the nucleotide sequence in the ADNP gene (p.Ala1017fs). Mutations in the ADNP gene in a heterozygous state were described for patients with Helsmoortel-van der Aa syndrome (OMIM: # 615873). Mutations in the ADNP gene are the genetic cause of ASD in 0.17% of cases. When interpreting the data of new generation sequencing (NGS) in patients with epileptic encephalopathy, ASD, and characteristic phenotype, it is advisable to take into account that the ADNP gene is one of the key genes responsible for embryonic neurodevelopment.

About the Authors

T. V. Kozhanova
V.F. Voyno-Yasenetsky Research and Practical Centre for Specialized Medical Treatment for Children; Pirogov Russian National Research Medical University
Russian Federation

MD, PhD, Researcher of the genetic group of the scientific department, laboratory geneticist, 38, Aviatorov str., Moscow 119620, Russia

1 Ostrovityanova Str., Moscow 117997, Russia



S. S. Zhilina
V.F. Voyno-Yasenetsky Research and Practical Centre for Specialized Medical Treatment for Children; Pirogov Russian National Research Medical University
Russian Federation

MD, PhD, Leading researcher of the genetic group of the scientific department, geneticist, 38, Aviatorov str., Moscow 119620, Russia

1 Ostrovityanova Str., Moscow 117997, Russia



T. I. Mescheryakova
V.F. Voyno-Yasenetsky Research and Practical Centre for Specialized Medical Treatment for Children
Russian Federation

MD, PhD, Leading researcher of the genetic group of the scientific department, geneticist,

38, Aviatorov str., Moscow 119620, Russia



E. G. Luk`yanova
V.F. Voyno-Yasenetsky Research and Practical Centre for Specialized Medical Treatment for Children
Russian Federation

MD, neurologist,

38, Aviatorov str., Moscow 119620, Russia



K. V. Osipova
V.F. Voyno-Yasenetsky Research and Practical Centre for Specialized Medical Treatment for Children
Russian Federation

MD, PhD, Head of Psychoneurology Department,

38, Aviatorov str., Moscow 119620, Russia



S. O. Ayvazyan
V.F. Voyno-Yasenetsky Research and Practical Centre for Specialized Medical Treatment for Children
Russian Federation

MD, PhD, scientific leader of the group for the study of resistant forms of epilepsy,

38, Aviatorov str., Moscow 119620, Russia



A. G. Prityko
V.F. Voyno-Yasenetsky Research and Practical Centre for Specialized Medical Treatment for Children; Pirogov Russian National Research Medical University
Russian Federation

MD, Dr Sci Med, Professor, Academician of Russian Academy of Natural Sciences, Director, 38, Aviatorov str., Moscow 119620, Russia

1 Ostrovityanova Str., Moscow 117997, Russia



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For citation:


Kozhanova T.V., Zhilina S.S., Mescheryakova T.I., Luk`yanova E.G., Osipova K.V., Ayvazyan S.O., Prityko A.G. Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder. Epilepsy and paroxysmal conditions. 2020;12(1):59-66. (In Russ.) https://doi.org/10.17749/2077-8333.2020.12.1.59-66

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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)