Article
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
European journal of human genetics : EJHG - 1 Jan 2008
Lezirovitz Karina, Pardono Eliete, de Mello Auricchio Maria T B, de Carvalho E Silva Fernando L, Lopes Juliana J, Abreu-Silva Ronaldo S, Romanos Jihane, Batissoco Ana C, Mingroni-Netto Regina C
Abstract excerpt
Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred Brazilian pedigree with 26 subjects affected by prelingual deafness. Given the extensive consanguinity found in this pedigree, the most probable pattern of inheritance is autosomal recessive....
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