A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

Autor: Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The PCDH15 gene, one of the five genes implicate

Externí odkaz: https://doaj.org/article/7b788bb3d7c2403c815d579012188e3e

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

Autor: Camille Cenni, Luke Mansard, Catherine Blanchet, David Baux, Christel Vaché, Corinne Baudoin, Mélodie Moclyn, Valérie Faugère, Michel Mondain, Eric Jeziorski, Anne-Françoise Roux, Marjolaine Willems

Publikováno v: Diagnostics, Vol 11, Iss 9, p 1636 (2021)

We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child’s mother (and

Externí odkaz: https://doaj.org/article/e6a6cf451298483093b82e2edbc31bdc

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Autor: Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)

Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing loss can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable. In general, mut

Externí odkaz: https://doaj.org/article/630403874b684cdf82cd8b7633db40fd

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

Autor: Roux, Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise

Publikováno v: International Journal of Molecular Sciences; Volume 22; Issue 24; Pages: 13294

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::f9d3639e0d6c4837350f0953f0fac2d5

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Autor: Michel Koenig, Julie Bianchi, Corinne Baudoin, Christel Vaché, Christine Francannet, David Baux, Valérie Faugère, Vasiliki Kalatzis, Anne-Françoise Roux

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-021-01010-9⟩
Eur J Hum Genet

International audience; Alterations of the transmembrane channel-like 1 gene (TMC1) are involved in autosomal recessive and dominant nonsyndromic hearing loss (NSHL). To date, up to 117 causal variants including substitutions, insertions and splice v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f43f144dbed1cc315d8e5b398c5859c9
https://hal.archives-ouvertes.fr/hal-03470784/document