LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.
Deafness
Exome sequencing
Homozygosity mapping
LHFPL5
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:
Dec 2019
Dec 2019
Historique:
received:
08
02
2018
revised:
30
07
2018
accepted:
22
11
2018
pubmed:
27
11
2018
medline:
13
3
2020
entrez:
27
11
2018
Statut:
ppublish
Résumé
Hearing loss is a debilitating disorder that impairs language acquisition, resulting in disability in children and potential isolation in adulthood. Its onset can have a genetic basis, though environmental factors, which are often preventable, can also cause the condition. The genetic forms are highly heterogeneous, and early detection is necessary to arrange appropriate patient support. Here we report the molecular basis of hereditary hearing loss in a consanguineous family with multiple affected members from Oman. Combining homozygosity mapping with whole exome sequencing identified a novel homozygous nucleotide substitution c.575T > C in the lipoma HMGIC fusion partner-like 5 gene (LHFPL5), that converted the 192
Identifiants
pubmed: 30476627
pii: S1769-7212(18)30102-2
doi: 10.1016/j.ejmg.2018.11.026
pii:
doi:
Substances chimiques
LHFPL5 protein, human
0
Membrane Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103592Subventions
Organisme : Medical Research Council
ID : MR/J004391/1
Pays : United Kingdom
Informations de copyright
Crown Copyright © 2018. Published by Elsevier Masson SAS. All rights reserved.