Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
CMA
IDD
WES
diagnostics
exome sequencing
intellectual disability
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
14 Jul 2022
14 Jul 2022
Historique:
received:
20
05
2022
revised:
11
07
2022
accepted:
12
07
2022
entrez:
27
7
2022
pubmed:
28
7
2022
medline:
29
7
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35887114
pii: ijms23147764
doi: 10.3390/ijms23147764
pmc: PMC9323143
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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