[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene].
Three families with branchio-oto-renal syndrome (BOR syndrome) were examined. In one of the families all its members with BOR syndrome had deletion of cytosine in position 759 (759delC) in DNA sequence of EYA1 gene in exone 8. Clinical characteristics of BOR syndrome in the family are given. Molecular-genetic analysis confirmed the diagnosis clinically in case of all signs of the syndrome presence among the members of the family. Rare cases of hereditary syndromes with hearing problems provide more knowledge about structure of hereditary hypoacusis forms in the population. The syndromal forms reflect a complex genetic basis of the processes of sound perception.
Markova
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D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008967:Molecular Biology / Q000379:methods*; D009687:Nuclear Proteins / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases