FEREC Claude

Identifying the DNA locus control regions involved in DFNB1 hearing loss

Project status: closed

Professor Claude Ferec, Director of Inserm Laboratory U-1078 (“Genetics, functional genomics and biotechnology”) in Brest, is studying the genetic mechanisms that may lead to DFNB1 hearing loss, the most common hereditary hearing disorder at birth.

More than 200 mutations have been reported but a significant portion of cases remain within known origin. This suggests that specific DNA regions regulate the expression of these genes.

Professor Ferec's project aims to identify these DNA regions. The discovery of these GJB2 and GJB6 locus-control regions would improve the genetic diagnosis of hearing loss.

Professor Claude Ferec
Professor of Genetics
Inserm Laboratory U-1078 (“Genetics, functional genomics and biotechnology”), Brest, France

Related scientific publication(s):

Stéphanie Moisan, Anaïs Le Nabec, Alicia Quillévéré, Cédric Le Maréchal, Claude Férec. Characterization of GJB2 cis-regulatory elements in the DFNB1 locus. Hum Genet. 2019 Dec;138(11-12):1275-1286. doi: 10.1007/s00439-019-02068-8. Epub 2019 Oct 4.
Anaïs Le Nabec, Mégane Collobert , Cédric Le Maréchal, Rémi Marianowski, Claude Férec , Stéphanie Moisan. Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients. Genes (Basel). 2021 Aug 19;12(8):1267. doi: 10.3390/genes12081267.
Anaïs Le Nabec, Clara Blotas, Alinéor Briset, Mégane Collobert, Claude Férec, Stéphanie Moisan. 3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2. Int J Mol Sci. 2022 Jun 23;23(13):6964. doi: 10.3390/ijms23136964.