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http://purl.uniprot.org/citations/32447495http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/32447495http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.org/dc/terms/identifier"doi:10.1007/s00405-020-06050-3"xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/author"Feng Y."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/author"He C."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/author"Huang S."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/author"Jiang L."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/author"Liu Y."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/author"Mei L."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/author"Wen J."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/author"Sang S."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/date"2020"xsd:gYear
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/name"Eur Arch Otorhinolaryngol"xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/pages"3331-3339"xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/title"Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families."xsd:string
http://purl.uniprot.org/citations/32447495http://purl.uniprot.org/core/volume"277"xsd:string
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