Genetic screening of XXXX with @entity259 in a referral center in Greece during the past two decades.

@entity8958 @entity1 @entity30659 @entity74 @entity13081 @entity259
OBJECTIVE: Mutations in the @entity8958 gene are responsible for hereditary @entity259 ( @entity259 ) and may vary between ethnic groups. We report the spectrum of mutations detected in @entity1 with @entity259 in a referral center in Greece. @entity1 AND METHODS: Screening for @entity8958 mutations was performed in 313 subjects from 188 unrelated families: 51 @entity1 had clinical suspicion for @entity74 , 133 were apparently sporadic, four @entity1 had only C cell hyperplasia, and 125 were family members. Exons 8, 10, 11, and 13-16 were screened. RESULTS: A total of 58 individuals (30.85%) were @entity8958 mutations carriers, 120 (63.8%) were finally classified as sporadic, 13 apparently sporadic cases (9.8%) were identified with @entity8958 mutation: ten carried the exon 8 at codon 533 mutation (previously reported), two the exon 14 at codon 804 mutation, and one the exon 13 at codon 768 mutation. Six @entity1 (3.19%) with clinical features of @entity13081 and negative for @entity8958 mutations were classified as 'unknown cause'. The mutations of hereditary cases were as follows: 21 cases (36.2%) in exon 8 codon 533, 19 (32.8%) in exon 11 codon 634, nine (15.5%) in exon 10, five (8.6%) in exon 16, three (5.2%) in exon 14 codon 804, and one in exon 13 codon 768 (1.7%). CONCLUSION: The spectrum of @entity8958 mutations in Greece differs from that in other populations and the prevalence of familial cases is higher. The exon 8 ( @entity30659 ) mutation was the most prevalent in familial cases unlike other series, followed by exon 11 (codon 634) mutations which are the most frequent elsewhere. The wide application of genetic screening in @entity259 reveals new molecular defects and helps to characterize the spectrum of mutations in each ethnic group.
