De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Issue 7 (16th May 2014)

• Record Type: Journal Article
• Authors: Tunovic, Sanjin; Barkovich, James; Sherr, Elliott H.; Slavotinek, Anne M.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 7(2014.)
• Page Start: 1744
• Page End: 1749
• Publication Date: 2014-05-16
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36450
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36450-sec-0001" sec-type="section"> <p>KBG syndrome is a rare, autosomal dominant disorder caused by mutations or deletions leading to haploinsufficiency for the Ankrin Repeating Domain‐Containing protein 11 (<italic>ANKRD11</italic>) at chromosome 16q24.3. Kabuki syndrome is caused by mutations or deletions of lysine (K)‐specific methyltransferase 2D (<italic>KMT2D</italic>) and lysine‐specific methylase 6A (<italic>KDM6A</italic>). 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 <italic>ANKRD11</italic>, c.2606_2608delAGA, predicting p.Lys869del and an additional, de novo mutation, c.2353T&gt;C, predicting p.Tyr785His in <italic>KDM1A</italic>, a gene not previously associated with a human phenotype. We describe this child as the first report of a deleterious sequence variant in <italic>KDM1A</italic> and hypothesize that his phenotype resulted from the combined effect of both mutations. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>