Unmasking Kabuki syndrome

被引：119

作者：

Boegershausen, N. ^{[1
,2
,3
]}

Wollnik, B. ^{[1
,2
,3
]}

机构：

[1] Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

[2] Univ Cologne, CMMC, D-50931 Cologne, Germany

[3] Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50931 Cologne, Germany

来源：

CLINICAL GENETICS | 2013年 / 83卷 / 03期

关键词：

Kabuki syndrome; KMT2D; MLL2; review; MAKE-UP-SYNDROME; NIIKAWA-KUROKI SYNDROME; RING CHROMOSOME-X; CLEFT-PALATE; DROSOPHILA-TRITHORAX; BILIARY ATRESIA; MLL2; GENE; MUTATIONS; SPECTRUM;

D O I：

10.1111/cge.12051

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on KS, provide genotypephenotype correlations and propose a strategic clinical and molecular diagnostic approach for patients with suspected KS.

引用

页码：201 / 211

页数：11

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