Autosomal dominant intellectual disability associated with the MED13L gene
O. A. Levchenko,
G. E. Rudenskaya,
T. V. Markova,
L. A. Bessonova,
A. V. Marakhonov,
S. E. Nagieva,
O. A. Shchagina,
A. V. Lavrov https://doi.org/10.21508/1027-4065-2022-67-1-101-107
Abstract
Intellectual disability is a widespread group of diseases with population frequency 1–3%. More than half of intellectual disability cases are due to various genetic causes, including monogenic ones. The paper describes three clinical cases of MED13L-associated intellectual disability with an autosomal dominant inheritance. Novel probably pathogenic variants p.Cys118delinsTrpSer and p.Gln2111fs, as well as the previously described p.Pro866Leu mutation in the MED13L gene (NM_015335), were detected in patients by massive parallel sequencing. А rare familial case with two affected maternal half-siblings was of particular interest since the mutation detected in both children was not found in the mother (blood cells and buccal epithelium were investigated). We assume the presence of gonadal mosaicism in the mother, which allows to recommend families with confirmed cases of MED13L-associated intellectual disability to plan pregnancies with prenatal or preimplantational diagnostics. The disease has been shown to have a wide clinical variability, even intrafamilial.
About the Authors
O. A. Levchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Moscow
G. E. Rudenskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Moscow
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Moscow
L. A. Bessonova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Moscow
A. V. Marakhonov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Moscow
S. E. Nagieva
Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
Moscow
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Moscow
A. V. Lavrov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Moscow
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For citations:
Levchenko O.A., Rudenskaya G.E., Markova T.V., Bessonova L.A., Marakhonov A.V., Nagieva S.E., Shchagina O.A., Lavrov A.V. Autosomal dominant intellectual disability associated with the MED13L gene. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2022;67(1):101-107. (In Russ.) https://doi.org/10.21508/1027-4065-2022-67-1-101-107
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