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Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2
Author(s) -
Kuroda Yukiko,
Ohashi Ikuko,
Saito Toshiyuki,
Nagai JunIchi,
Ida Kazumi,
Naruto Takuya,
Wada Takahito,
Kurosawa Kenji
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36704
Subject(s) - ube3a , angelman syndrome , breakpoint , genetics , biology , ataxia , comparative genomic hybridization , epilepsy , karyotype , chromosomal inversion , chromosome , gene , neuroscience , ubiquitin ligase , ubiquitin
Angelman syndrome (AS) is characterized by severe intellectual disability with ataxia, epilepsy, and behavioral uniqueness. The underlining molecular deficit is the absence of the maternal copy of the imprinted UBE3A gene due to maternal deletions, which is observed in 70–75% of cases, and can be detected using fluorescent in situ hybridization (FISH) of the UBE3A region. Only a few familial AS cases have been reported with a complete deletion of UBE3A . Here, we report on siblings with AS caused by a microdeletion of 15q11.2‐q12 encompassing UBE3A at the breakpoint of an inversion at 15q11.2 and 15q26.1. Karyotyping revealed an inversion of 15q, and FISH revealed the deletion of the UBE3A region. Array comparative genomic hybridization (CGH) demonstrated a 467 kb deletion at 15q11.2‐q12, encompassing only UBE3A , SNORD115 , and PAR1 , and a 53 kb deletion at 15q26.1, encompassing a part of SLCO3A1 . Their mother had a normal karyotype and array CGH detected no deletion of 15q11.2‐q12, so we assumed gonadal mosaicism. This report describes a rare type of familial AS detected using the D15S10 FISH test. © 2014 Wiley Periodicals, Inc.