![]() ![]() Although nuclear gene defects constitute the majority of cases of hereditary hearing loss, it has become clear that mutations in mtDNA can also cause NSHL. The most common mutations in GJB3 are c.538C>T and c.547G>A. ![]() The GJB3 gene, which is related to hereditary NSHL, was first cloned in the Chinese population, and mutations in GJB3 are associated with progressive hearing loss. In China, the most common mutation of SLC26A4 is IVS7-2 A>G, with an allele frequency ranging from 5.13% to 11.06%. Mutations in the SLC26A4 gene are responsible for Pendred syndrome (PDS) and enlarged vestibular aqueduct syndrome (EVA), with hearing loss detected at birth or in early childhood. A SLC26A4 mutation is the second most common cause of deafness in China. Four common mutations (c.235delC, c.299_ 300delAT, c.176_ 191del16, and c.35delG) account for 88.0% of GJB2 mutant alleles in the Chinese population. Mutations in the GJB2 gene are the most frequent causes of nonsyndromic autosomal recessive sensorineural hearing loss in most Asian populations, including Han Chinese. With respect to genetic factors of NSHL in China, GJB2 variants appear to be the most common (23.37%), followed by variants in the SLC26A4 (14.74%), MT-RNR1 (2.56%) and GJB3(1.97%) genes. However, previous epidemiological studies have shown that nearly half of NSHL cases are related to the following genes with recurrent mutations in the Chinese population: GJB2 ( OMIM: 121011), GJB3 ( OMIM: 603324), SLC26A4 ( OMIM: 605646) and the mitochondrial gene MT-RNR1 ( OMIM: 561000). To date, more than 80 genes and more than a hundred genetic loci have been mapped and associated with hereditary hearing loss ( ). Hearing loss is etiologically heterogeneous, and it has been estimated that at least two thirds of the cases of childhood-onset hearing loss have genetic causes. In China, there are approximately 0.8 million children (less than 7 years of age) with hearing impairments, and this proportion exhibits an annual increase of 30,000 children. Hearing loss, which severely affects patients’ daily quality of life, is one of the most common sensory impairments, affecting approximately one to three newborns per every 1,000 live births. This does not alter our adherence to the PLOS ONE policies on sharing data and materials. We also thank all the neonates and their parents for their cooperation during this work.Ĭompeting interests: The authors declare the following interest: S Liao is affiliated with Shenzhen Yilifang Biotech CO., LTD. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.ĭata Availability: All relevant data are within the paper and its Supporting Information files.įunding: This work was supported by the Dongguan Bureau of Science and Technology for the City Key Program of Science and Technology (Project Number: 2013108101018) and the Science and Technology Planning Project of Guangdong Province (Project Number: 2014A020213001). Received: JanuAccepted: ApPublished: May 15, 2017Ĭopyright: © 2017 Li et al. PLoS ONE 12(5):Įditor: Dror Sharon, Hebrew University Hadassah Medical School, ISRAEL Citation: Li S, Peng Q, Liao S, Li W, Ma Q, Lu X (2017) A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population. ![]()
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