Open AccessHelsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder
Author(s) -
Т. В. Кожанова,
С. С. Жилина,
T. I. Mescheryakova,
E. G. Lukyanova,
К. В. Осипова,
S. O. Ayvazyan,
А. Г. Притыко
Publication year - 2020
Publication title -
èpilepsiâ i paroksizmalʹnye sostoâniâ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.112
H-Index - 1
eISSN - 2311-4088
pISSN - 2077-8333
DOI - 10.17749/2077-8333.2020.12.1.59-66
Subject(s) - intellectual disability , autism spectrum disorder , epilepsy , autism , genetics , gene , copy number variation , phenotype , fragile x syndrome , angelman syndrome , mutation , biology , psychology , psychiatry , neuroscience , genome
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.