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Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene

Z. Čada, D. Šafka Brožková, Z. Balatková, P. Plevová, D. Rašková, J. Laštůvková, R. Černý, V. Bandúrová, V. Koucký, S. Hrubá, M. Komarc, J. Jenčík, S. Poisson Marková, J. Plzák, J. Kluh, P. Seeman,

. 2019 ; 276 (12) : 3353-3358. [pub] 20190924

Jazyk angličtina Země Německo

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc20005866

Grantová podpora
16-31173A Ministerstvo Zdravotnictví Ceské Republiky
DRO 00064203 Ministerstvo Zdravotnictví Ceské Republiky
NV16-31173A MZ0 CEP - Centrální evidence projektů

INTRODUCTION: Hearing loss is the most frequent sensory disorder and is genetically extremely heterogeneous. By far the most frequent cause of nonsyndromic autosomal recessive hearing loss (AR-NSHL) are biallelic pathogenic mutations in the GJB2 gene causing DFNB1. The worldwide search for the second most common type of AR-NSHL took almost two decades. Recently reported alterations (mostly deletions) of the STRC gene, also named DFNB16, seem to be the second most frequent cause of AR-NSHL. Genetic testing of STRC is very challenging due to the highly homologous pseudogene. Anecdotal evidence from single patients shows that STRC mutations have their typical audiological findings and patients usually have moderate hearing loss. The aim of this study is to discover if audiological findings in patients with biallelic pathogenic mutations affecting STRC have the characteristic features and shape of audiological curves and if there are genotype/phenotype correlations in relation to various types of STRC mutations. METHODS: Eleven hearing loss patients with pathogenic mutations on both alleles of the STRC gene were detected during routine genetic examination of AR-NSHL patients. Audiological examination consisted of pure tone audiometry, stapedial reflexes, tympanometry and otoacoustic emission tests. RESULTS: The threshold of pure tone average (PTA) was 46 dB and otoacoustic emissions were not detectable in these DFNB16 patients. All patients were without vestibular irritation or asymmetry. CONCLUSION: Moderate sensorineural hearing loss is typical for DFNB16-associated hearing loss and there are no significant differences in audiological phenotypes among different types of mutations affecting STRC.

Citace poskytuje Crossref.org

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