Premium
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review
Author(s) -
Yang Pu,
Tan Hu,
Xia Yan,
Yu Qian,
Wei Xianda,
Guo Ruolan,
Peng Ying,
Chen Chen,
Li Haoxian,
Mei Libin,
Huang Yanru,
Liang Desheng,
Wu Lingqian
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37634
Subject(s) - kabuki syndrome , exon , kabuki , genetics , phenotype , gene , girl , mutation , long arm , chromosome , biology , medicine , art , visual arts
Kabuki syndrome (KS) is a rare condition with multiple congenital anomalies and mental retardation. Exonic deletions, disrupting the lysine (K)‐specific demethylase 6A ( KDM6A ) gene have been demonstrated as rare cause of KS. Here, we report a de novo 227‐kb deletion in chromosome Xp11.3 of a 7‐year‐old Chinese girl with KS. Besides the symptoms of KS, the patient also presented with skin allergic manifestations, which were considered to be a new, rare feature of the phenotypic spectrum. The deletion includes the upstream region and exons 1–2 of KDM6A and potentially causes haploinsuffiency of the gene. We also discuss the mutation spectrum of KDM6A and clinical variability of patients with KDM6A deletion through a literature review. © 2016 Wiley Periodicals, Inc.