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Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2.

Hum. Mutat. 37, 847-864 (2016)
Postprint DOI
Open Access Green
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Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, while mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and 9 were shown to be de novo. We give an up-to-date overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients. This article is protected by copyright. All rights reserved.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Kdm6a ; Kdm6c ; Kmt2d ; Kabuki Syndrome ; Mll2 ; Uty; De-novo Mutations; Demethylase Utx; Large Cohort; Mll2 Gene; Spectrum; Deletion; Identification; Hypoglycemia; Phenotype; Patient
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