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. 2022 Jul 14;23(14):7764.
doi: 10.3390/ijms23147764.

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Olga Levchenko  1 , Elena Dadali  1 , Ludmila Bessonova  1 , Nina Demina  1 , Galina Rudenskaya  1 , Galina Matyushchenko  1 , Tatiana Markova  1 , Inga Anisimova  1 , Natalia Semenova  1 , Olga Shchagina  1 , Oxana Ryzhkova  1 , Rena Zinchenko  1 , Varvara Galkina  1 , Victoria Voinova  2   3 , Sabina Nagieva  1 , Alexander Lavrov  1
Affiliations

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Olga Levchenko et al. Int J Mol Sci. .

Abstract

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.

Keywords: CMA; IDD; WES; diagnostics; exome sequencing; intellectual disability.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Efficiency of exome sequencing before (a) and after (b) segregation, tested by Sanger sequencing.
Figure 2
Figure 2
Distribution of patients with different numbers of dysmorphic features in groups with and without a molecularly confirmed diagnosis.
Figure 3
Figure 3
Diagnostic efficiency depending on the number of the major phenotypic features.
See this image and copyright information in PMC

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