Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatmen...

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Bibliographic Details
Main Authors: Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, María del Prado Venegas
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Genetics
Subjects:
WFS1 gene
congenital hearing loss
NGS
Wolfram-like syndrome
optic atrophy
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.998898/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.998898/full

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