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Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome

✍ Scribed by S. Russo; F. Cogliati; M. Viri; F. Cavalleri; A. Selicorni; L. Turolla; S. Belli; A. Romeo; L. Larizza

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 42 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(200004)15:4<387::aid-humu25>3.0.co;2-w

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✦ Synopsis

Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions (∼ ∼70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation pattern with biparental inheritance characterizes the remaining ∼ ∼20-25% AS patients (Stalker et al.,1998; Tsai et al.,1998). Mutations in the Ubiquitin protein ligase 3A gene (UBE3A) have been found in the latter group, but only preliminary figures are available on their frequencies. We selected a sample of 25 AS patients with a clinical diagnosis of AS and a normal methylation pattern in order to search for mutations of the UBE3A gene. Automated sequencing of exons 8, 9 , 10, 11 and 12 performed on our 25 patients allowed us to identify three novel mutations : an 897insA in two unrelated familial cases, a 2544insA and an E167X in two sporadic cases. Mutation R482X previously reported in a sporadic patient was identified in a third familial case.

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