부산대학교 도서관

Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11–q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11–q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20–30% of AS individuals with biparental inheritance and a normal pattern of allelic methylation in 15q11–q13. Mutations of UBE3A have recently been identified as causing AS in the latter group. Few studies have investigated the phenotypic differences between these classes. We compared 20 non-deletion to 20 age-matched deletion patients and found significant phenotypic differences between the two groups. The more severe phenotype in the deletion group may suggest a contiguous gene syndrome. [ABSTRACT FROM AUTHOR]