PMID- 20563649
OWN - NLM
STAT- MEDLINE
DCOM- 20110526
LR  - 20211020
IS  - 1573-4978 (Electronic)
IS  - 0301-4851 (Linking)
VI  - 38
IP  - 2
DP  - 2011 Feb
TI  - Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with 
      hereditary nonsyndromic deafness.
PG  - 1309-13
LID - 10.1007/s11033-010-0231-y [doi]
AB  - In developed countries deafness has a genetic cause in over 60% of the cases. 
      Contrastingly, in Brazil, it is estimated that only 16% of all deafnesses are 
      caused by genetic factors. Among hereditary hearing deficiencies, approximately 
      half is caused by mutations in the Gap Junction Protein Beta-2 (GJB2) gene, which 
      encodes the protein Connexin 26 (Cx26). There are four mutations in this gene 
      that present high prevalence in specific ethnical groups, namely, 35delG, 
      167delT, 235delC, and W24X. The 35delG mutation is the most frequent one, 
      occurring in homozygosity or in compound heterozygosity with mutations in the 
      GJB2 and GJB6 genes. This study aims to determine the prevalence of GJB2-35delG, 
      GJB2-167delT, GJB2-235delC, GJB2-W24X, del (GJB6-D13S1830), and del 
      (GJB6-D13S1854) mutations in patients with nonsyndromic deafness in the Espirito 
      Santo State, Brazil. A total of 77 individuals were evaluated, from which 88.3% 
      presented normal genotypes for all analyzed mutations, 1.3% were compound 
      heterozygotes for 35delG-GJB2/D13S1830-GJB6, 1.3% were compound heterozygotes for 
      35delG/D13S1854-GJB6, 3.9% were homozygotes for the 35delG mutation and 5.2% were 
      heterozygotes for 35delG/GJB2. The frequency of mutant alleles 35delG/GJB2, del 
      (D13S1830/GJB6), and del (D13S1854/GJB6) was 7.8, 0.65, and 0.65%, respectively. 
      Mutations 167delT, 235delC, and W24X were not detected. Determining the 
      prevalence of specific mutations related to inherited deafness in a population 
      can contribute to the development of more efficient and affordable molecular 
      diagnostic protocols, and help in the genetic counseling of patients and their 
      families.
FAU - Cordeiro-Silva, Melissa de Freitas
AU  - Cordeiro-Silva Mde F
AD  - Laboratorio de Genetica e Biologia Molecular, Faculdades Integradas Sao 
      Pedro-FAESA, Rodovia Serafim Derenzi, 3115, Sao Pedro, 29048-450, Vitoria, ES, 
      Brazil.
FAU - Barbosa, Andressa
AU  - Barbosa A
FAU - Santiago, Marilia
AU  - Santiago M
FAU - Provetti, Mariana
AU  - Provetti M
FAU - Dettogni, Raquel Spinasse
AU  - Dettogni RS
FAU - Tovar, Thais Tristao
AU  - Tovar TT
FAU - Rabbi-Bortolini, Eliete
AU  - Rabbi-Bortolini E
FAU - Louro, Iuri Drumond
AU  - Louro ID
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100619
PL  - Netherlands
TA  - Mol Biol Rep
JT  - Molecular biology reports
JID - 0403234
RN  - 0 (Connexin 30)
RN  - 0 (Connexins)
RN  - 0 (GJB2 protein, human)
RN  - 0 (GJB6 protein, human)
RN  - 127120-53-0 (Connexin 26)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Brazil
MH  - Child
MH  - Child, Preschool
MH  - Connexin 26
MH  - Connexin 30
MH  - Connexins/*genetics
MH  - Female
MH  - Hearing Loss, Sensorineural/*ethnology/*genetics
MH  - Heterozygote
MH  - Humans
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - *Mutation
EDAT- 2010/06/22 06:00
MHDA- 2011/05/27 06:00
CRDT- 2010/06/22 06:00
PHST- 2010/04/25 00:00 [received]
PHST- 2010/06/11 00:00 [accepted]
PHST- 2010/06/22 06:00 [entrez]
PHST- 2010/06/22 06:00 [pubmed]
PHST- 2011/05/27 06:00 [medline]
AID - 10.1007/s11033-010-0231-y [doi]
PST - ppublish
SO  - Mol Biol Rep. 2011 Feb;38(2):1309-13. doi: 10.1007/s11033-010-0231-y. Epub 2010 
      Jun 19.