A p.C343S missense mutation in PJVK causes progressive hearing loss

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• 作者：Ghulam Mujtaba ^{gmuj2006@yahoo.com} ; Ihtisham Bukhari ^{bukhari5408@gmail.com} ; Amara Fatima ^{amara_lhr@yahoo.com} ; Sadaf Naz ; ^{naz.sbs@pu.edu.pk}
• 关键词：ABR ; auditory brainstem response ; ANSD ; auditory neuropathy syndrome disorder ; BSND ; Bartter Syndrome ; infantile ; with sensorineural deafness (Barttin) ; DFNB59 ; deafness ; autosomal recessive ; locus 59 ; GIPC3 ; GAIP-interacting protein C terminus 3 ; GJB2 ; g
• 刊名：Gene
• 出版年：2012
• 出版时间：1 August, 2012
• 年：2012
• 卷：504
• 期：1
• 页码：98-101
• 全文大小：357 K

文摘

Mutations in PJVK, encoding Pejvakin, cause autosomal recessive nonsyndromic hearing loss in humans at the DFNB59 locus on chromosome 2q31.2. Pejvakin is involved in generating auditory and neural signals in the inner ear. We have identified a consanguineous Pakistani family segregating sensorineural progressive hearing loss as a recessive trait, consistent with linkage to DFNB59. We sequenced PJVK and identified a novel missense mutation, c.1028G > C in exon 7 (p.C343S) co-segregating with the phenotype in the family. The p.C343 residue is fully conserved among orthologs from different vertebrate species. We have also determined that mutations in PJVK are not a common cause of hearing loss in families with moderate to severe hearing loss in Pakistan. This is the first report of PJVK mutation in a Pakistani family and pinpoints an important residue for PJVK function.