A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.
CNOT1
holoprosencephaly
neonatal diabetes mellitus
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
02 05 2019
02 05 2019
Historique:
received:
07
12
2018
accepted:
18
03
2019
pubmed:
23
4
2019
medline:
7
2
2020
entrez:
23
4
2019
Statut:
ppublish
Résumé
Holoprosencephaly is the incomplete separation of the forebrain during embryogenesis. Both genetic and environmental etiologies have been determined for holoprosencephaly; however, a genetic etiology is not found in most cases. In this report, we present two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missense variant in the gene CCR4-NOT transcription complex, subunit 1 (CNOT1). The variant (c.1603C>T [p.Arg535Cys]) is predicted to be deleterious and is not present in public databases. CNOT1 has not been previously associated with holoprosencephaly or other brain malformations. In situ hybridization analyses of mouse embryos show that Cnot1 is expressed in the prosencephalic neural folds at gestational day 8.25 during the critical period for subsequent forebrain division. Combining human and mouse data, we show that CNOT1 is associated with incomplete forebrain division.
Identifiants
pubmed: 31006510
pii: S0002-9297(19)30113-2
doi: 10.1016/j.ajhg.2019.03.017
pmc: PMC6506867
pii:
doi:
Substances chimiques
CNOT1 protein, human
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
990-993Subventions
Organisme : NIEHS NIH HHS
ID : R01 ES026819
Pays : United States
Organisme : NIEHS NIH HHS
ID : T32 ES007015
Pays : United States
Informations de copyright
Published by Elsevier Inc.
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