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Ververi-Brady syndrome associated with QRICH1 variants (clinical cases)
https://doi.org/10.25557/2073-7998.2022.02.23-31
Abstract
Recent advances in sequencing technologies have enabled identification of multiple genes associated with intellectual disability disorders, including QRICH1 gene. Ververi-Brady syndrome (VBS; MIM: #617982) is a rare developmental disorder, characterized by mild developmental delay, mildly impaired intellectual development and speech delay and mild dysmorphic facial features. For the first time in Russia, clinical and molecular description of two patients with epilepsy, developmental and speech delay, and mild dysmorphic facial features is presented. The variants nucleotide sequence in QRICH1 gene - missense mutation (c.1711G>A; p. Asp571Asn) and frameshift mutations (c.1963_1964insT; p.Lys655IlefsTer) were detected by whole exome sequencing. To date, thirty-eight individuals have been reported with QRICH1 mutations in the world.
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. Mescheryakova
St. Luka’s Clinical Research Center for Children
Russian Federation
Russian Federation
E. G. Luk`yanova
St. Luka’s Clinical Research Center for Children
Russian Federation
Russian Federation
L. M. Sushko
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
A. G. Prityko
St. Luka’s Clinical Research Center for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
N. N. Zavadenko
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
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Review
For citations:
Kozhanova T.V., Zhilina S.S., Mescheryakova T.I., Luk`yanova E.G., Sushko L.M., Osipova K.V., Ayvazyan S.O., Prityko A.G., Zavadenko N.N. Ververi-Brady syndrome associated with QRICH1 variants (clinical cases). Medical Genetics. 2022;21(2):23-31. (In Russ.) https://doi.org/10.25557/2073-7998.2022.02.23-31
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