Your browser doesn't support javascript.
loading
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.
Liu, Yalan; Wen, Jie; Sang, Shushan; Mei, Lingyun; He, Chufeng; Jiang, Lu; Huang, Sida; Feng, Yong.
Afiliação
  • Liu Y; Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
  • Wen J; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, 410008, Hunan, China.
  • Sang S; Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
  • Mei L; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, 410008, Hunan, China.
  • He C; Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
  • Jiang L; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, 410008, Hunan, China.
  • Huang S; Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
  • Feng Y; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, 410008, Hunan, China.
Eur Arch Otorhinolaryngol ; 277(12): 3331-3339, 2020 Dec.
Article em En | MEDLINE | ID: mdl-32447495
ABSTRACT

OBJECTIVES:

The identification of gene mutations enables more appropriate genetic counseling and proper medical management for EVA patients. The purpose of this study was to validate the accuracy and sensitivity of our method for comprehensive mutation detection in EVA, and summarize these data to explore a more accurate and convenient genetic diagnosis method.

METHODS:

A multiplex PCR sequencing panel was designed to capture the exons of three known EVA-associated genes (SLC26A4, KCNJ10, and FOXI1), and NGS was conducted in 17 Chinese families with EVA.

RESULTS:

A total of 16 SLC26A4 variants were found in 21 probands with bilateral EVA, including three novel variants (c.416G>A, c.823G>A and c.1027G>C), which were not reported in the dbSNP, gnomAD database, and ClinVar databases. One patient carried a FOXI1 variant (heterozygous, c.214C>A) and one patient carried a KCNJ10 variant (heterozygous, c.1054C>A), both of which were novel variants. Biallelic potential pathogenic variants were detected in 21/21patient samples, leading to a purported diagnostic rate of 100%. All results were verified by Sanger sequencing.

CONCLUSION:

This result supplemented the mutation spectrum of EVA, and supports that combined multiple PCR-targeted enrichment, and NGS is a valuable molecular diagnostic tool for EVA, and is suitable for clinical application.
Assuntos
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aqueduto Vestibular / Canais de Potássio Corretores do Fluxo de Internalização / Fatores de Transcrição Forkhead / Sequenciamento de Nucleotídeos em Larga Escala / Transportadores de Sulfato / Perda Auditiva / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur Arch Otorhinolaryngol Assunto da revista: OTORRINOLARINGOLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aqueduto Vestibular / Canais de Potássio Corretores do Fluxo de Internalização / Fatores de Transcrição Forkhead / Sequenciamento de Nucleotídeos em Larga Escala / Transportadores de Sulfato / Perda Auditiva / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur Arch Otorhinolaryngol Assunto da revista: OTORRINOLARINGOLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China