A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

TitleA three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
Publication TypeJournal Article
Year of Publication2014
AuthorsLederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I
JournalAm J Med Genet A
Date Published2014 Mar 24
ISSN1552-4833
Abstract

Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki-like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X-linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A. © 2014 Wiley Periodicals, Inc.

DOI10.1002/ajmg.a.36442
Alternate JournalAm. J. Med. Genet. A
Citation Key1430
PubMed ID24664873