A rigorous
1p13.3 deletion
ELAPOR1
GSTM5
LRIF1
VAV3
WDR47
autism
intellectual disability
Journal
Frontiers in molecular neuroscience
ISSN: 1662-5099
Titre abrégé: Front Mol Neurosci
Pays: Switzerland
ID NLM: 101477914
Informations de publication
Date de publication:
2022
2022
Historique:
received:
27
06
2022
accepted:
30
08
2022
entrez:
24
10
2022
pubmed:
25
10
2022
medline:
25
10
2022
Statut:
epublish
Résumé
Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb comprise up to 15% of human mutations leading to monogenic or contiguous genomic disorders. Albeit rare, CNVs at 1p13.3 cause a variety of neurodevelopmental disorders (NDDs) including development delay (DD), intellectual disability (ID), autism, epilepsy, and craniofacial anomalies (CFA). Most of the 1p13.3 CNV cases reported in the pre-microarray era encompassed a large number of genes and lacked the demarcating genomic coordinates, hampering the discovery of positional candidate genes within the boundaries. In this study, we present four subjects with 1p13.3 microdeletions displaying DD, ID, autism, epilepsy, and CFA.
Identifiants
pubmed: 36277487
doi: 10.3389/fnmol.2022.979061
pmc: PMC9582330
doi:
Types de publication
Journal Article
Langues
eng
Pagination
979061Informations de copyright
Copyright © 2022 Ben-Mahmoud, Jun, Gupta, Shastri, de la Fuente, Park, Shin, Kim, da Cruz, Pinto, Minasi, Silva da Cruz, Faivre, Callier, Racine, Layman, Kong, Kim, Kim and Kim.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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