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Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Human genetics - 1 Apr 2022

Batissoco Ana Carla, Pedroso-Campos Vinicius, Pardono Eliete, Sampaio-Silva Juliana, Sonoda Cindy Yukimi, Vieira-Silva Gleiciele Alice, da Silva de Oliveira Longati Estefany Uchoa, Mariano Diego, Hoshino Ana Cristina Hiromi, Tsuji Robinson Koji, Jesus-Santos Rafaela, Abath-Neto Osório, Bento Ricardo Ferreira, Oiticica Jeanne, Lezirovitz Karina

Abstract excerpt

Hearing loss is one of the most common sensory defects, affecting 5.5% of the worldwide population and significantly impacting health and social life. It is mainly attributed to genetic causes, but their relative contribution reflects the geographical region's socio-economic development. Extreme genetic heterogeneity with hundreds of deafness genes involved poses challenges for molecular diagnosis. Here we report...

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PMID: 34599368
DOI: 10.1007/s00439-021-02372-2

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