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

100%

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

Journal of Applied Genetics

2004

tom 45

nr 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.

The Development of Visual Attention in Deaf Children in Relation to Mother's Hearing Status

100%

Chasin J. , Harris M.

Polish Psychological Bulletin

2008

tom 39

nr 1

1-8

Patterns of visual attention during free-play in deaf children with deaf (Dd) and hearing mothers (Dh) were compared at 9, 12 and 18 months. Dd children were more likely to look at their mother's face spontaneously than Dh children at all ages although spontaneous looking increased significantly at 18 months for both groups. The proportion of responsive looks declined at 12 months for the Dd group but not until 18 months for the Dh group. Elicited looking was more common in the Dd group and, at 12 months, a greater proportion of these looks were to the mother's face. Overall the results suggest that Dd children show greater sensitivity to the communicative significance of their mother's face in the second year of life.