De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Child, Preschool
Cytoskeletal Proteins
/ biosynthesis
Dwarfism
/ genetics
Exons
/ genetics
Gene Expression Regulation
Genetic Association Studies
Humans
Male
Neurodevelopmental Disorders
/ genetics
Protein Isoforms
/ biosynthesis
RNA, Messenger
/ biosynthesis
Sequence Deletion
Syndrome
Transcription Factors
/ biosynthesis
Transcription Initiation Site
Transcription, Genetic
AUTS2 gene
AUTS2 syndrome
expression
short isoform
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
05
08
2020
revised:
03
11
2020
accepted:
22
11
2020
pubmed:
22
12
2020
medline:
20
7
2021
entrez:
21
12
2020
Statut:
ppublish
Résumé
Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and mutations, has been recurrently involved in syndromic forms of developmental delay and intellectual disability, known as AUTS2 syndrome. The AUTS2 gene plays an important role in regulation of neuronal migration, and when altered, associates with a variable phenotype from severely to mildly affected patients. The more severe phenotypes significantly correlate with the presence of defects affecting the C-terminus part of the gene. This article reports a new patient with a syndromic neurodevelopmental disorder, who presents a deletion of 30 nucleotides in the exon 9 of the AUTS2 gene. Importantly, this deletion includes the transcription start site for the AUTS2 short transcript isoform, which has an important role in brain development. Gene expression analysis of AUTS2 full-length and short isoforms revealed that the deletion found in this patient causes a remarkable reduction in the expression level, not only of the short isoform, but also of the full AUTS2 transcripts. This report adds more evidence for the role of mutated AUTS2 short transcripts in the development of a severe phenotype in the AUTS2 syndrome.
Identifiants
pubmed: 33346930
doi: 10.1002/ajmg.a.62017
doi:
Substances chimiques
AUTS2 protein, human
0
Cytoskeletal Proteins
0
Protein Isoforms
0
RNA, Messenger
0
Transcription Factors
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
877-883Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
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