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1.
Int J Pediatr Otorhinolaryngol ; 125: 128-132, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31301639

RESUMO

BACKGROUND: Millions of people around the world are plagued by hearing loss. More than 50% of congenital or pre-lingual deafness is associated with genetic factors and has highly genetic heterogeneity. To date, although hundreds of genes have been found to be implicated in non-syndromic deafness, there are still lots of genes or loci that we need to verify. METHODS: In this study, we performed target sequencing and Sanger sequencing in a Kazakh consanguineous family with autosomal recessive non-syndromic hearing loss. Following that, functional and structural studies predicted the pathogenic effect of novel mutations by use of the online tools. RESULTS: We identified a novel homozygous mutation p.R3191C in MYO15A gene causing deafness in this family. The mutation p.R3191C co-segregated with the disease phenotype in this family and was not present in any public databases. Automatic tools predict that the novel mutation makes a great impact on the function and structure of MYO15A protein. CONCLUSIONS: This is a novel mutation of MYO15A causing deafness and also the first report of MYO15A mutations causing deafness in the Kazakh families. This finding expanded the spectrum of MYO15A mutations, making it more precise for future genetic diagnosis in patients with deafness.


Assuntos
Povo Asiático/genética , Perda Auditiva/etnologia , Perda Auditiva/genética , Mutação/genética , Miosinas/genética , China , Feminino , Genes Recessivos , Homozigoto , Humanos , Masculino , Linhagem , Fenótipo
2.
Mol Genet Genomics ; 290(3): 1135-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25557914

RESUMO

With a prevalence of 0.1 %, hearing loss is among the most common sensory impairments and affects several million people around the world. Identification of deafness-related genes or loci may facilitate basic research and clinical translational research of the disorder. The PTPRQ gene encodes protein tyrosine phosphatase receptor Q, which is required for the formation of shaft connectors and the normal maturation and development of hair bundles in the mammalian cochlea. Here, we present the genetic and molecular characteristics of a Kazakh family with an autosomal recessive non-syndromic hearing impairment, DFNB84. Using whole-exome sequencing, we identified two mutations that together form a novel compound heterozygous mutation in PTPRQ. Sanger sequencing confirmed that the affected members inherited both the c.16_17insT (L8fsX18) and c.2714delA (E909fsX922) mutations. Both mutations lead to a frameshift and a truncated form of the protein. The novel compound heterozygous mutation co-segregated with hearing loss in this family, and neither of the two mutations was found in 200 healthy Kazakh controls or in any of the public databases. In the study, we identified novel mutations in PTPRQ responsible for DFNB84. This is the third report of PTPRQ mutations involved in deafness and the first report of familial deafness in China. The identification of novel mutations in PTPRQ presented here further confirms the essential role of PTPRQ in hearing development and auditory function. Our data provide additional molecular information for establishing a better genotype-phenotype understanding of DFNB84.


Assuntos
Perda Auditiva Neurossensorial/genética , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores/genética , China , Análise Mutacional de DNA , Exoma/genética , Feminino , Perda Auditiva Neurossensorial/etnologia , Heterozigoto , Humanos , Cazaquistão/etnologia , Masculino , Mutação , Linhagem , Análise de Sequência de DNA
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