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http://purl.uniprot.org/citations/20533261http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20533261http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment(NSHI).

Methods

Two NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 (MYH14) gene were amplified by PCR and sequenced.

Results

The disease-causing gene of these 2 pedigrees was fine mapped to the DFNA4 locus on 19q13.33. A heterozygous transition of c. 359T>C (p.S120L) in MYH14 gene was identified. The mutation was detected in all patients but not in normal members in the two families.

Conclusion

It is the first report that mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment."xsd:string
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http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Li H."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Liu P."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Yang R."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Wang Q."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Zhan T.L."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Ke T."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Liu M.G."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Mao H.Y."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Tang Z.H."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Zhu Z.F."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Yuan W.L."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/author"Zhan C.X."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/pages"259-262"xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/title"[c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor]."xsd:string
http://purl.uniprot.org/citations/20533261http://purl.uniprot.org/core/volume"27"xsd:string
http://purl.uniprot.org/citations/20533261http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/20533261
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http://purl.uniprot.org/uniprot/#_B3KV65-mappedCitation-20533261http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/20533261
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