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Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

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Alexandrino F., Oliveira C. A., Reis F. C., Maciel-Guerra A. T., Sartorato E. I.

Journal of Applied Genetics

2004

vol. 45

issue 2

249-254

Deafness is a complex disorder that is affected by a high number of genes and environmental factors. Recently, enormous progress has been made in nonsyndromic deafness research, with the identification of 90 loci and 33 nuclear and 2 mitochondrial genes involved (http://dnalab-www.uia.ac.be/dnalab/hhh/). Mutations in the GJB3 gene, encoding the gap junction protein connexin 31 (Cx31), have been pathogenically linked to erythrokeratodermia variabilis and nonsyndromic autosomal recessive or dominant hereditary hearing impairment. To determine the contribution of the GJB3 gene to sporadic deafness, we analysed the GJB3 gene in 67 families with nonsyndromic hearing impairment. A single coding exon of the GJB3 gene was amplified from genomic DNA and then sequenced. Here we report on three amino acid changes: Y177D (c.529T > G), 49delK (c.1227C > T), and R32W (c.144-146delGAA). The latter substitution has been previously described, but its involvement in hearing impairment remains uncertain. We hypothesize that mutations in the GJB3 gene are an infrequent cause of nonsyndromic deafness.

Molecular findings in Brazilian patients with osteogenesis imperfecta

86%

Reis F. C., Alexandrino F., Steiner C. E., Norato D. Y. J., Cavalcanti D. P., Sartorato E. L.

Journal of Applied Genetics

2005

vol. 46

issue 1

105-108

Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bones. Hence, the aim of the present study was to identify mutations in the COL1A1 gene in 13 unrelated Brazilian OI patients. This is the first molecular study of OI in Brazil. We found 6 mutations, 4 of them novel (c.1885delG, p.P239A, p.G592S, p.G649D) and 2 previously described (p.R237X and p.G382S). Thus, the findings show that there are no prevalent mutations in our sample, and that their distribution is similar to that reported by other authors, with preponderance of substitutions for glycine in the triple helix domain, causing OI types II, III and IV.

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2 Journal of Applied Genetics

1 2005

1 2004

2 Alexandrino F.

2 Reis F. C.

1 Cavalcanti D. P.

1 Maciel-Guerra A. T.

1 Norato D. Y. J.

1 Oliveira C. A.

1 Sartorato E. I.

1 Sartorato E. L.

1 Steiner C. E.

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Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

Molecular findings in Brazilian patients with osteogenesis imperfecta