TRANSLATIONAL PHYSIOLOGY Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss
نویسندگان
چکیده
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss Pu Dai,* Andrew K. Stewart,* Fouad Chebib, Ann Hsu, Julia Rozenfeld, Deliang Huang, Dongyang Kang, Va Lip, Hong Fang, Hong Shao, Xin Liu, Fei Yu, Huijun Yuan, Margaret Kenna, David T. Miller, Yiping Shen, Weiyan Yang, Israel Zelikovic, Orah S. Platt, Dongyi Han, Seth L. Alper, and Bai-Lin Wu Department of Otorhinolaryngology Head and Neck Surgery and Genetic Testing Center for Deafness, PLA General Hospital, Beijing, People’s Republic of China; Renal Division and Molecular and Vascular Medicine Unit, Beth Israel Deaconess Medical Center, Boston, Massachusetts; Department of Pediatrics, Rambam Medical Center and Department of Physiology and Biophysics, Technion School of Medicine, Haifa, Israel; Department of Laboratory Medicine, Department of Otolaryngology, and Division of Genetics, Children’s Hospital Boston, Harvard Medical School, Boston, Massachusetts; and Institutes of Biomedical Science, Fudan University, Shanghai, People’s Republic of China
منابع مشابه
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
Mutations of the human SLC26A4/PDS gene constitute the most common cause of syndromic and nonsyndromic hearing loss. Definition of the SLC26A4 mutation spectrum among different populations with sensorineural hearing loss is important for development of optimal genetic screening services for congenital hearing impairment. We screened for SLC26A4 mutations among Chinese and U.S. subjects with hea...
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OBJECTIVES To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model. DESIGN Validation of the mutation by its exclusion in more than 300 individuals...
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BACKGROUND Nonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4. A recent study proposed that single mutations in both SLC26A4 and KCNJ10 lead to digenic NSEVA. We examined whether KCNJ10 excert a role in the pathogenesis of N...
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OBJECTIVE To investigate the molecular etiologic causes of sporadic nonsyndromic hearing loss in Chinese children. METHODS 179 sporadic nonsyndromic hearing loss children were subjected to microarray-based mutation detection for nine hot spot mutations in four of the most common deafness-related genes, including GJB2, SLC26A4, GJB3, and 12s rRNA. RESULTS The incidence of positive genetic er...
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The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin, which is an anion exchanger expressed in apical membranes of selected epithelia. In the inner ear, pendrin is expressed in the cochlea, the vestibular labyrinth and the endolymphatic sac. Loss-of-function and hypo-functional mutations cause an enlargement of the vestibular aqueduct (EVA) and sensorineural hearin...
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