A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild...
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| Published in | Brazilian journal of medical and biological research Vol. 42; no. 2; pp. 168 - 171 |
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| Abstract | Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a wild-type allele and a p.L76P mutation, had normal hearing. The mutation leads to the substitution of leucine (L) by proline (P) at residue 76, an evolutionarily conserved position in Cx26 as well as in other connexins. This mutation is predicted to affect the first extracellular domain (EC1) or the second transmembrane domain (TM2). EC1 is important for connexon-connexon interaction and for the control of channel voltage gating. The segregation of the c.227C>T (p.L76P) mutation together with c.35delG in this family indicates a recessive mode of inheritance. The association between the p.L76P mutation and hearing impairment is further supported by its absence in a normal hearing control group of 100 individuals, 50 European-Brazilians and 50 African-Brazilians. |
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| AbstractList | Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a wild-type allele and a p.L76P mutation, had normal hearing. The mutation leads to the substitution of leucine (L) by proline (P) at residue 76, an evolutionarily conserved position in Cx26 as well as in other connexins. This mutation is predicted to affect the first extracellular domain (EC1) or the second transmembrane domain (TM2). EC1 is important for connexon-connexon interaction and for the control of channel voltage gating. The segregation of the c.227C>T (p.L76P) mutation together with c.35delG in this family indicates a recessive mode of inheritance. The association between the p.L76P mutation and hearing impairment is further supported by its absence in a normal hearing control group of 100 individuals, 50 European-Brazilians and 50 African-Brazilians. |
| Author | Mingroni-Netto, R C Kimura, L Batissoco, A C Auricchio, M T B M Tabith-Junior, A |
| AuthorAffiliation | Universidade de São Paulo Pontifícia Universidade Católica de São Paulo |
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| Author_xml | – sequence: 1 givenname: A C surname: Batissoco fullname: Batissoco, A C organization: Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brasil – sequence: 2 givenname: M T B M surname: Auricchio fullname: Auricchio, M T B M – sequence: 3 givenname: L surname: Kimura fullname: Kimura, L – sequence: 4 givenname: A surname: Tabith-Junior fullname: Tabith-Junior, A – sequence: 5 givenname: R C surname: Mingroni-Netto fullname: Mingroni-Netto, R C |
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Rodriguez-Ballesteros, M; Alvarez, A; Hutchin, T; Leonardi, E; de, Oliveira CA – volume: 1720 start-page: 35 year: 2005 end-page: 43 article-title: Length of C-terminus of rCx46 influences oligomerization and hemichannel properties publication-title: Biochim Biophys Acta contributor: fullname: Zeilinger, C; Steffens, M; Kolb, HA – volume: 6 start-page: 2173 year: 1997 end-page: 2177 article-title: Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene publication-title: Hum Mol Genet contributor: fullname: Denoyelle, F; Weil, D; Maw, MA; Wilcox, SA; Lench, NJ; len-Powell, DR – volume: 32 start-page: 163 year: 2000 end-page: 166 article-title: Gap junction systems in the mammalian cochlea publication-title: Brain Res Brain Res Rev contributor: fullname: Kikuchi, T; Kimura, RS; Paul, DL; Takasaka, T; Adams, JC – publication-title: Connexin deafness homepage – volume: 353 start-page: 1298 year: 1999 end-page: 1303 article-title: Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling publication-title: Lancet contributor: fullname: Denoyelle, F; Marlin, S; Weil, D; Moatti, L; Chauvin, P; Garabedian, EN – volume: 143A start-page: 1580 year: 2007 end-page: 1582 article-title: Molecular study in Brazilian cochlear implant recipients publication-title: Am J Med Genet A contributor: fullname: Christiani, TV; Alexandrino, F; de, Oliveira CA; Amantini, RC; Bevilacqua, MC; Filho, OA – volume: 62 start-page: 172 year: 1992 end-page: 180 article-title: Mutational analysis of gap junction formation publication-title: Biophys J contributor: fullname: Dahl, G; Werner, R; Levine, E; Rabadan-Diehl, C – volume: 30 start-page: 1 year: 2009 end-page: 7 article-title: Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling publication-title: Ear Hear contributor: fullname: Batissoco, AC; Abreu-Silva, RS; Braga, MC; Lezirovitz, K; Della-Rosa, V; Alfredo, T Jr – volume: 191 start-page: 101 year: 1995 end-page: 118 article-title: Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis publication-title: Anat Embryol contributor: fullname: Kikuchi, T; Kimura, RS; Paul, DL; Adams, JC – volume: 15 start-page: 1 year: 1996 end-page: 27 article-title: Connections with connexins: the molecular basis of direct intercellular signaling publication-title: Eur J Bioch contributor: fullname: Bruzzone, R; White, TW; Paul, DL – volume: 30 start-page: 3894 year: 2002 end-page: 3900 article-title: Human non-synonymous SNPs: server and survey publication-title: Nucleic Acids Res contributor: fullname: Ramensky, V; Bork, P; Sunyaev, S – volume: 16 start-page: 190 year: 2000 end-page: 202 article-title: Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins publication-title: Hum Mutat contributor: fullname: Rabionet, R; Gasparini, P; Estivill, X – publication-title: PolyPhen - polymorphism phenotyping |
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| SubjectTerms | BIOLOGY Brazil c.227C>T Child Child, Preschool Connexin 26 Connexins - genetics Deafness - ethnology Deafness - genetics Family Female Genes, Recessive - genetics GJB2 gene Hearing impairment Humans Male MEDICINE, RESEARCH & EXPERIMENTAL Mutation, Missense - genetics p.L76P |
| Title | A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family |
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