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Am J Med Genet A. 2014 Jul;164A(7):1744-9. doi: 10.1002/ajmg.a.36450. Epub 2014 May 16.

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

Author information

1
Department of Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, California.

Abstract

KBG syndrome is a rare, autosomal dominant disorder caused by mutations or deletions leading to haploinsufficiency for the Ankrin Repeating Domain-Containing protein 11 (ANKRD11) at chromosome 16q24.3. Kabuki syndrome is caused by mutations or deletions of lysine (K)-specific methyltransferase 2D (KMT2D) and lysine-specific methylase 6A (KDM6A). We report on a male with developmental delays, cleft palate, craniofacial dysmorphism, hypotonia, and central nervous system anomalies including diminished white matter with thinning of the corpus callosum. Exome sequencing revealed a de novo mutation in ANKRD11, c.2606_2608delAGA, predicting p.Lys869del and an additional, de novo mutation, c.2353T>C, predicting p.Tyr785His in KDM1A, a gene not previously associated with a human phenotype. We describe this child as the first report of a deleterious sequence variant in KDM1A and hypothesize that his phenotype resulted from the combined effect of both mutations.

KEYWORDS:

ANKRD11; KBG syndrome; KDM1A; KDM6A; Kabuki syndrome

PMID:
24838796
DOI:
10.1002/ajmg.a.36450
[Indexed for MEDLINE]

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