title: GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.
abstract: Mutations in gap junction proteins encoding beta connexions are believed to be a major cause for congenital hearing loss. The purpose of this study was to do comparative analyses of frequencies of most prominent mutations responsible for congenital deafness. Using fluorescence PCR method, the entire coding region of GJB2 gene, GJB3 gene, and SLC26A4 was analyzed. Direct DNA sequencing was used to analyze mutations in these genes among unrelated 2,674 cases of newborns. Also, 12S rRNA mutation was also studied in these cases. In 2,674 cases of newborns from June 2013 to June 2014, found deafness mutation in 137 cases (5.12 % of carrier rate), carrying GJB2 mutations in 68 cases (2.54 % of carry rate), GJB3 mutations in 10 cases (0.37 % of carry rate), SLC26A4 mutations in 54 cases (2.02 % of carry rate), and mitochondrial 12S rRNA mutations in five cases (0.19 % of carry rate). The study concludes that GJB2 gene mutation is the most common and mitochondrial 12S rRNA mutations are the least common mutation for congenital hearing loss in Chinese newborns.
authors: Genetic Medicine Center, Xuzhou Maternity and Child Health Care Hospital, No. 46, Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, People's Republic of China.
authors: Yuan
authors: Y
authors: Fang
authors: Genetic Medicine Center, Xuzhou Maternity and Child Health Care Hospital, No. 46, Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, People's Republic of China.
authors: Maosheng
authors: M
authors: Gu
authors: Genetic Medicine Center, Xuzhou Maternity and Child Health Care Hospital, No. 46, Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, People's Republic of China.
authors: Chuanxia
authors: C
authors: Wang
authors: Genetic Medicine Center, Xuzhou Maternity and Child Health Care Hospital, No. 46, Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, People's Republic of China.
authors: Feng
authors: F
authors: Suo
authors: Department of Radiology, Xuzhou Central Hospital, No. 199, Jiefangnan Road, Xuzhou, 221009, Jiangsu, People's Republic of China. guangmingwang1@gmail.com.
authors: Guangming
authors: G
authors: Wang
authors: Department of Obstetrics and Gynecology, Xuzhou Maternity and Child Health Care Hospital, No. 46, Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, People's Republic of China.
authors: Yujuan
authors: Y
authors: Xia
mesh_terms: D016022:Case-Control Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26
keywords: Congenital hearing loss; GBJ2; GBJ3; Mitochondrial 12S rRNA