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Article

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

American journal of medical genetics. Part A - 1 Nov 2014

Kuroda Yukiko, Ohashi Ikuko, Saito Toshiyuki, Nagai Jun-Ichi, Ida Kazumi, Naruto Takuya, Wada Takahito, Kurosawa Kenji

Abstract excerpt

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...

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PMID: 25099823
DOI: 10.1002/ajmg.a.36704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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