Enlarging clinical spectrum of @entity7104 with XXXX gene mutations: @entity72745 variant in an Italian family showing phenotypic variability and relevance for genetic counselling.

@entity1 @entity72745 @entity2655 @entity72744 @entity4943 @entity529 @entity1367 @entity7104
OBJECTIVE: The present study was aimed to enlarge the Italian @entity2655 sample analysed for @entity529 gene mutations. METHODS: Genomic DNA from 47 @entity1 , 70 @entity4943 @entity1 and 158 controls was extracted from peripheral blood samples according to a standard protocol. The five coding exons (2-6) of the @entity529 gene and the flanking exon-intron boundaries were analysed by direct sequencing. Using ClustalW2 @entity1 @entity529 , protein sequence was aligned with @entity529 protein sequence of different species. RESULTS: A heterozygous @entity72744 transition that leads to a change @entity72745 was observed in a 75-years-old male @entity1 and in his two affected siblings. A @entity1 's brother had died at 69 years of age after a two-year history of @entity2655 . In @entity4943 @entity1 no mutations were found. CONCLUSIONS: We describe a further Italian family with @entity7104 , in which a variant ( @entity72745 ) of the @entity529 gene was identified. Clinical course and phenotypic variability in three affected siblings is presented and relevance for genetic counselling of @entity1 and their families is underlined. At the present state of knowledge, we suggest that the same guidelines established for @entity1367 molecular testing could be proposed also for @entity529 analysis in @entity7104 .
