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http://purl.uniprot.org/citations/25930172http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25930172http://www.w3.org/2000/01/rdf-schema#comment"

Objective

Hereditary hearing loss is a clinically and genetically heterogeneous disorder associated with mutations of a large number of diverse genes. In this study we applied targeted capture and massively parallel sequencing to identify the disease-causing gene of a Chinese family segregating recessive inherited deafness.

Methods

After excluding mutations in common deafness genes GJB2, SLC26A4, mitochondrial m.1555A>G, genomic DNA of the proband of family GDSW24 was subjected to targeted next-generation sequencing. Subsequently, a candidate homozygous mutation was confirmed by Sanger sequencing.

Results

A novel PCDH15 c.2367_2369delTGT/p.V788-homozygous mutation was detected. In this family, no obvious vestibular disorder was found. The in-frame mutation c.2367_2369delTGT is located in the evolutionarily conserved EC7 domain of Protocadherin-15 and was predicted to be pathogenic.

Conclusion

The novel homozygous mutation in a family segregating non-syndromic hearing loss family supports previous reported observations that PCDH15 does not only causes Usher syndrome type 1F, but also DFNB23."xsd:string
http://purl.uniprot.org/citations/25930172http://purl.org/dc/terms/identifier"doi:10.1016/j.ijporl.2015.04.002"xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/author"Chen D."xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/author"Jiang H."xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/author"Liu M."xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/author"Zhan Y."xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/author"Chen K."xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/name"Int J Pediatr Otorhinolaryngol"xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/pages"983-986"xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/title"Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23."xsd:string
http://purl.uniprot.org/citations/25930172http://purl.uniprot.org/core/volume"79"xsd:string
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