A novel mutation in SLC26A4 causes nonsyndromic autosomal recessive hearing impairment

A Wolf, A Frohne, M Allen, T Parzefall… - Otology & …, 2017 - journals.lww.com
A Wolf, A Frohne, M Allen, T Parzefall, M Koenighofer, MM Schreiner, C Schoefer, K Frei…
Otology & Neurotology, 2017•journals.lww.com
Background: Heterozygous mutations in GJB2 (MIM: 121011) encoding the gap junction
protein connexin 26 are overrepresented in patient groups suffering from nonsyndromic
sensorineural hearing impairment (HI) implying the involvement of additional genetic factors.
Mutations in SLC26A4 (MIM: 605646), encoding the protein pendrin can cause both
Pendred syndrome and autosomal recessive, nonsyndromic HI locus 4 type sensorineural
HI (MIM: 600791). Objectives: Aim of this study was to investigate the role of SLC26A4 …
Abstract
Background:
Heterozygous mutations in GJB2 (MIM: 121011) encoding the gap junction protein connexin 26 are overrepresented in patient groups suffering from nonsyndromic sensorineural hearing impairment (HI) implying the involvement of additional genetic factors. Mutations in SLC26A4 (MIM: 605646), encoding the protein pendrin can cause both Pendred syndrome and autosomal recessive, nonsyndromic HI locus 4 type sensorineural HI (MIM: 600791).
Objectives:
Aim of this study was to investigate the role of SLC26A4 coding mutations in a nonsyndromic hearing impairment (NSHI) patient group bearing heterozygous GJB2 35delG mutations.
Design:
We analyzed the 20 coding exons of SLC26A4 in a group of patients (n= 15) bearing heterozygous 35delG mutations and exclusively suffering from congenital HI.
Results:
In a case of bilateral congenital hearing loss we identified a rare, novel SLC26A4 exon 2 splice donor mutation (c. 164+ 1delG) predicted to truncate pendrin in the first cytoplasmic domain, as a compound heterozygote with the pathogenic missense mutation c. 1061T> C (p. 354F> S; rs111033243).
Conclusions:
Screening for SLC26A4 mutations may identify the genetic causes of hearing loss in patients bearing heterozygous mutations in GJB2.
Hypothesis:
SLC26A4 coding mutations are genetic causes for nonsyndromic HI in patients bearing heterozygous GJB2 35delG mutations.
Lippincott Williams & Wilkins
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