Genetics of Mental Retardation

Лавров, В. Ф.; Bannikov, V; Чаушева, И.; Дадали, Л.

doi:10.21508/1027-4065-2016-61-6-13-20

Cited by 4 publications

(1 citation statement)

References 33 publications

(46 reference statements)

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“…However, the overall efficiency of NGS efficiency is higher than that of CMA. We believe that NGS should be the standard first-line diagnostic method after the standard examination (karyotype, TMS, urinary organic acids, abnormal methylation of the FMR1 promoter region, point mutations, and deletions/duplications in the MECP2 gene [ 50 ]) in patients with IDD in Russia.…”

Section: Discussionmentioning

confidence: 99%

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Levchenko

Дадали

Bessonova

et al. 2022

IJMS

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Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it is impossible to establish a clinical diagnosis without complex genetic diagnostics. We examined 198 patients with non-specific IDD from 171 families using whole-exome sequencing and chromosome microarray analysis. Hereditary forms of IDD account for at least 35.7% of non-specific IDD, of which 26.9% are monogenic forms. Variants in the genes associated with the BAF (SWI/SNF) complex were the most frequently identified. We were unable to identify phenotypic features that would allow differential diagnosis of monogenic and microstructural chromosomal rearrangements in non-specific IDD at the stage of clinical examination, but due to its higher efficiency, exome sequencing should be the diagnostic method of the highest priority study after the standard examination of patients with NIDD in Russia.

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Section: Discussionmentioning

confidence: 99%

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Levchenko

Дадали

Bessonova

et al. 2022

IJMS

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Massive parallel sequencing for molecular-genetic diagnosis of mental retardation

Levchenko

Лавров

2018

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Autosomal dominant intellectual disability associated with the MED13L gene

Levchenko

Rudenskaya

Маркова

et al. 2022

Ross. vestn. perinatol. pediatr.

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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.

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Genetics of Mental Retardation

Cited by 4 publications

References 33 publications

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Massive parallel sequencing for molecular-genetic diagnosis of mental retardation

Autosomal dominant intellectual disability associated with the MED13L gene

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