Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2. Issue 11 (6th August 2014)

• Record Type: Journal Article
• Authors: Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun‐Ichi; Ida, Kazumi; Naruto, Takuya; Wada, Takahito; Kurosawa, Kenji
• Is Part Of: American journal of medical genetics. Volume 164:Issue 11(2014.)
• Page Start: 2873
• Page End: 2878
• Publication Date: 2014-08-06
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36704
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36704-sec-0001" sec-type="section"> <p>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 <italic>UBE3A</italic> 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 <italic>UBE3A</italic> region. Only a few familial AS cases have been reported with a complete deletion of <italic>UBE3A</italic>. Here, we report on siblings with AS caused by a microdeletion of 15q11.2‐q12 encompassing <italic>UBE3A</italic> 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 <italic>UBE3A</italic> region. Array comparative genomic hybridization (CGH) demonstrated a 467 kb deletion at 15q11.2‐q12, encompassing only <italic>UBE3A</italic>, <italic>SNORD115</italic>, and <italic>PAR1</italic>, and a 53 kb deletion at 15q26.1, encompassing a part of <italic>SLCO3A1</italic>. 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.</p> </sec> </abstract>