Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
20 Jul 2021
20 Jul 2021
Historique:
received:
23
05
2021
accepted:
16
06
2021
revised:
16
06
2021
entrez:
21
7
2021
pubmed:
22
7
2021
medline:
22
7
2021
Statut:
epublish
Résumé
Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the first exon of the MSX1 gene. The deletion leads to a frameshift and generates a premature termination codon. The truncated form of MSX1, namely, p.(Trp145Leufs*24) lacks the homeodomain, which is crucial for transcription factor function.
Identifiants
pubmed: 34285200
doi: 10.1038/s41439-021-00161-x
pii: 10.1038/s41439-021-00161-x
pmc: PMC8292458
doi:
Types de publication
Journal Article
Langues
eng
Pagination
29Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP17nk0101334
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP 20ek0109397
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP17nk0101334
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP 20ek0109397
Informations de copyright
© 2021. The Author(s).
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