A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.
BHLHA9
Indel variant
Mesoaxial synostotic syndactyly
Phalangeal reduction
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
17
04
2018
revised:
23
07
2018
accepted:
09
08
2018
pubmed:
15
8
2018
medline:
2
4
2019
entrez:
15
8
2018
Statut:
ppublish
Résumé
Mesoaxial syndactyly is characterized by fusion of the central digits. The disorder segregates in autosomal recessive pattern and mapped on human chromosome 17p13.3. Homozygous missense mutations in the BHLHA9 have been reported to cause mesoaxial synostotic syndactyly with phalangeal reduction (MSSD). In the present study, we have investigated a family segregating mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) in autosomal recessive manner. Genotyping using microsatellite markers followed by Sanger sequencing revealed a homozygous deletion and insertion mutation (NM_001164405: c.252_270delinsGCA; p.(Phe85Glufs*108)) in the BHLHA9 gene in affected individuals of the family. This study reports the first frameshift mutation in the BHLHA9 causing mesoaxial synostotic syndactyly and phalangeal reduction.
Identifiants
pubmed: 30107244
pii: S1769-7212(18)30287-8
doi: 10.1016/j.ejmg.2018.08.005
pii:
doi:
Substances chimiques
BHLHA9 protein, human
0
Basic Helix-Loop-Helix Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
278-281Informations de copyright
Copyright © 2018 Elsevier Masson SAS. All rights reserved.