A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
12q deletion syndrome
12q15
CNOT2
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:
08 2019
08 2019
Historique:
received:
12
12
2018
revised:
10
04
2019
accepted:
13
05
2019
pubmed:
31
5
2019
medline:
29
7
2020
entrez:
31
5
2019
Statut:
ppublish
Résumé
Only a few individuals with 12q15 deletion have been described, presenting with a disorder characterized by learning disability, developmental delay, nasal speech, and hypothyroidism. The smallest region of overlap for this syndrome was included in a genomic segment spanning CNOT2, KCNMB4, and PTPRB genes. We report on an additional patient harboring a 12q15 microdeletion encompassing only part of CNOT2 gene, presenting with a spectrum of clinical features overlapping the 12q15 deletion syndrome phenotype. We propose CNOT2 as the phenocritical gene for 12q15 deletion syndrome and its haploinsufficiency being associated with an autosomal dominant disorder, presenting with developmental delay, hypotonia, feeding problems, learning difficulties, nasal speech, skeletal anomalies, and facial dysmorphisms.
Identifiants
pubmed: 31145527
doi: 10.1002/ajmg.a.61217
doi:
Substances chimiques
CNOT2 protein, human
0
Repressor Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1615-1621Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
© 2019 Wiley Periodicals, Inc.