A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
Title | A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I |
Journal | Am J Med Genet A |
Date Published | 2014 Mar 24 |
ISSN | 1552-4833 |
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. |
DOI | 10.1002/ajmg.a.36442 |
Alternate Journal | Am. J. Med. Genet. A |
Citation Key | 1430 |
PubMed ID | 24664873 |
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