Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family

Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system. SNHL can occur as a symptom in more than 400 syndromes, and mutations in more than 150 genes can lead to SNHL. Mutations in the GJB2 and GJB6 genes are among...

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Principais autores:	Aliasgar Mohammadi, Marziyeh Hoseinzadeh, Sina Narrei, Mohammad Reza Pourreza, Yousof Mohammadi, Mahnaz Norouzi, Ladan Sadeghian, Mohammad Amin Tabatabaiefar
Formato:	Artigo
Idioma:	Inglês
Publicado em:	SpringerOpen 2024-09-01
coleção:	Egyptian Journal of Medical Human Genetics
Assuntos:	Non-syndromic hearing loss CDH23 OTOGL Whole exome sequencing Sanger sequencing Bioinformatics study
Acesso em linha:	https://doi.org/10.1186/s43042-024-00578-3
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