Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees


Autoria(s): Bakhchane, Amina; Charif, Majida; Salime, Sara; Boulouiz, Redouane; Nahili, Halima; Roky, Rachida; Lenaers, Guy; Barakat, Abdelhamid
Contribuinte(s)

Biologie Neurovasculaire et Mitochondriale Intégrée ; Université d'Angers (UA) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)

Data(s)

2015

Resumo

International audience

<p>Mutations in the TBC1D24 gene are responsible for four neurological presentations: infantile epileptic encephalopathy, infantile myoclonic epilepsy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and NSHL (non-syndromic hearing loss). For the latter, two recessive (DFNB86) and one dominant (DFNA65) mutations have so far been identified in consanguineous Pakistani and European/Chinese families, respectively. Here we report the results of a genetic study performed on a large Moroccan cohort of deaf patients that identified three families with compound heterozygote mutations in TBC1D24. Four novel mutations were identified, among which, one c.641G>A (p.Arg214His) was present in the three families, and has a frequency of 2% in control Moroccan population with normal hearing, suggesting that it acts as an hypomorphic variant leading to restricted deafness when combined with another recessive severe mutation. Altogether, our results show that mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco, and that due to its possible compound heterozygote recessive transmission, this gene should be further considered and screened in other deaf cohorts.</p>

Identificador

hal-01392231

https://hal.archives-ouvertes.fr/hal-01392231

DOI : 10.1371/journal.pone.0138072

OKINA : ua14261

Idioma(s)

en

Publicador

HAL CCSD

Public Library of Science

Relação

info:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0138072

Fonte

ISSN: 1932-6203

PLoS ONE

https://hal.archives-ouvertes.fr/hal-01392231

PLoS ONE, Public Library of Science, 2015, 10, pp.e0138072. <http://www.plosone.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pone.0138072&representation=PDF>. <10.1371/journal.pone.0138072>

http://www.plosone.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pone.0138072&representation=PDF

Palavras-Chave #[SDV] Life Sciences [q-bio]
Tipo

info:eu-repo/semantics/article

Journal articles