Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss

Beck, Christopher; Pérez-Álvarez, Jose Carmelo; Sigrüener, Alexander; Haubner, Frank; Seidler, Till; Aslanidis, Charalampos; Strutz, Jürgen; Schmitz, Gerd

doi:10.1007/s00405-014-3157-5

Cited by 8 publications

(7 citation statements)

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“…Mutations in several genes result in similar clinical presentation of nonsyndromic hearing loss. On the other hand, mutations in the same gene can result in various clinical presentations [2,3]. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is usually prelingual, nonprogressive and severe to profound [4].…”

Section: Introductionmentioning

confidence: 99%

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss

Battelino

Klančar

Kovač

et al. 2015

Eur Arch Otorhinolaryngol

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Nonsyndromic genetic deafness is highly heterogeneous in its clinical presentation, pattern of inheritance and underlying genetic causes. Mutations in TMPRSS3 gene encoding transmembrane serine protease account for <1 % of autosomal recessive nonsyndromic hearing loss (ARNSHL) in Caucasians. Targeted next generation sequencing in the index family with profound deaf parents and a son, and Sanger sequencing of selected TMPRSS3 gene regions in a cohort of thirty-five patients with suspected ARNSHL was adopted. A son and his mother in the index family were homozygous for TMPRSS3 c.208delC (p.His70Thrfs*19) variant. Father was digenic compound heterozygote for the same variant and common GJB2 c.35delG variant. Three additional patients from the ARNSHL cohort were homozygous for TMPRSS3 c.208delC. TMPRSS3 defects seem to be an important cause of ARNSHL in Slovenia resulting in uniform phenotype with profound congenital hearing loss, and satisfactory hearing and speech recognition outcome after cochlear implantation. Consequently, TMPRSS3 gene analysis should be included in the first tier of genetic investigations of ARNSHL along with GJB2 and GJB6 genes.

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Section: Introductionmentioning

confidence: 99%

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss

Battelino

Klančar

Kovač

et al. 2015

Eur Arch Otorhinolaryngol

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show abstract

“…28 Similar results were observed in American, 10 Moroccan, 25 and Indian 29 NSHI. The allele frequencies of variants in GJB3 and GJB6 were estimated to be "0-2.78%" 8,10,13,[25][26][27][28] and "0%- This study has several weaknesses. Apart from the limited numbers in this cohort, we were unable to collect the data of the I:1 and I:2 in this family, who did not prepare to participate in our study, since they "had normal hearing and language ability".…”

Section: Discussionmentioning

confidence: 96%

“…Great efforts have been made toward clarifying the contributions of GJB3 and GJB6 mutations to deafness in diverse populations during the past decades . To address this issue, Yang et al screened 380 Chinese (260 with NSHI and 120 with normal hearing) for variants in eight connexin genes.…”

Section: Discussionmentioning

confidence: 99%

“…Similar results were observed in American, Moroccan, and Indian NSHI. The allele frequencies of variants in GJB3 and GJB6 were estimated to be “0‐2.78%” and “0%‐1.42%” respectively. Our present results, in combination with preceding studies, suggest that the effect of GJB3 and GJB6 in GJB2 carriers may not be predominant.…”

Section: Discussionmentioning

confidence: 99%

“…Great efforts have been made toward clarifying the contributions of GJB3 and GJB6 mutations to deafness in diverse populations during the past decades. 8,10,11,13,18,[25][26][27][28][29] Likewise, a genetic study of 129 Italian NSHI infants for GJB6 and GJB3 genes found no mutation. 28 Similar results were observed in American, 10 Moroccan, 25 and Indian 29 NSHI.…”

Section: Discussionmentioning

confidence: 99%

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