NDLI: Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

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Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

Content Provider	MDPI
Author	Maria, K. Haanpää Sanna, Häkli Kraatari-Tiri, Minna Willberg, Tytti Pohjola, Pia Keski-Filppula, Riikka Kuismin, Outi Moilanen, Jukka S. Rahikkala, Elisa
Copyright Year	2022
Description	Sensorineural hearing loss (SNHL) is one of the most common sensory deficits worldwide, and genetic factors contribute to at least 50–60% of the congenital hearing loss cases. The transmembrane channel-like protein 1 (TMC1) gene has been linked to autosomal recessive (DFNB7/11) and autosomal dominant (DFNA36) non-syndromic hearing loss, and it is a relatively common genetic cause of SNHL. Here, we report eight Finnish families with 11 affected family members with either recessively inherited homozygous or compound heterozygous TMC1 variants associated with congenital moderate-to-profound hearing loss, or a dominantly inherited heterozygous TMC1 variant associated with postlingual progressive hearing loss. We show that the TMC1 c.1534C>T, p.(Arg512*) variant is likely a founder variant that is enriched in the Finnish population. We describe a novel recessive disease-causing TMC1 c.968A>G, p.(Tyr323Cys) variant. We also show that individuals in this cohort who were diagnosed early and received timely hearing rehabilitation with hearing aids and cochlear implants (CI) have reached good speech perception in noise. Comparison of the genetic data with the outcome of CI rehabilitation increases our understanding of the extent to which underlying pathogenic gene variants explain the differences in CI rehabilitation outcomes.
Starting Page	1837
e-ISSN	20770383
DOI	10.3390/jcm11071837
Journal	Journal of clinical medicine
Issue Number	7
Volume Number	11
Language	English
Publisher	MDPI
Publisher Date	2022-03-26
Access Restriction	Open
Subject Keyword	Journal of clinical medicine Journal of Clinical Medicine Otorhinolaryngology Tmc1 Hearing Loss Cochlear Implant Hearing Rehabilitation Congenital
Content Type	Text
Resource Type	Article

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