[PMID]: | 29258540 |
[Au] Autor: | Choi HJ; Lee JS; Yu S; Cha DH; Gee HY; Choi JY; Lee JD; Jung J |
[Ad] Endereço: | Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, South Korea. |
[Ti] Título: | Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report. |
[So] Source: | BMC Med Genet;18(1):151, 2017 12 19. |
[Is] ISSN: | 1471-2350 |
[Cp] País de publicação: | England |
[La] Idioma: | eng |
[Ab] Resumo: | BACKGROUND: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION: Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. CONCLUSION: This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a "hot spot" in WFS1, which is associated with LF-NSHL. |
[Mh] Termos MeSH primário: |
Surdez/genética Perda Auditiva Bilateral/genética Proteínas de Membrana/genética Mutação de Sentido Incorreto/genética
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[Mh] Termos MeSH secundário: |
Adolescente Grupo com Ancestrais do Continente Asiático/genética Audiometria Feminino Seres Humanos Masculino Meia-Idade República da Coreia Osso Temporal/diagnóstico por imagem Tomografia Computadorizada por Raios X Sequenciamento Completo do Exoma
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[Pt] Tipo de publicação: | CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T |
[Nm] Nome de substância:
| 0 (Membrane Proteins); 0 (wolframin protein) |
[Em] Mês de entrada: | 1712 |
[Cu] Atualização por classe: | 171231 |
[Lr] Data última revisão:
| 171231 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 171221 |
[St] Status: | MEDLINE |
[do] DOI: | 10.1186/s12881-017-0511-7 |
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