De Novo Exonic Deletion of KDM6A in a Chinese Girl with Kabuki Syndrome: A Case Report and Brief Literature Review

被引：16

作者：

Yang, Pu ^{[1
]}

Tan, Hu ^{[1
]}

Xia, Yan ^{[1
]}

Yu, Qian ^{[2
]}

Wei, Xianda ^{[1
]}

Guo, Ruolan ^{[1
]}

Peng, Ying ^{[1
]}

Chen, Chen ^{[1
,3
]}

Li, Haoxian ^{[1
]}

Mei, Libin ^{[1
]}

Huang, Yanru ^{[1
]}

Liang, Desheng ^{[1
]}

Wu, Lingqian ^{[1
]}

机构：

[1] Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410008, Hunan, Peoples R China

[2] Cent S Univ, Xiangya Hosp 2, Dept Haematol, Changsha, Hunan, Peoples R China

[3] Cent S Univ, Xiangya Hosp, Dept Pediat, Changsha, Hunan, Peoples R China

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2016年 / 170卷 / 06期

关键词：

Kabuki syndrome; lysine (K)-specific demethylase 6A; skin allergic manifestations; clinical variability; NIIKAWA-KUROKI SYNDROME; PHENOTYPIC SPECTRUM; MENTAL-RETARDATION; LARGE COHORT; MUTATIONS; MLL2; DEMETHYLASE; GROWTH; UTX; DEFICIENCY;

D O I：

10.1002/ajmg.a.37634

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2016 Wiley Periodicals, Inc.

引用

页码：1613 / 1621

页数：9

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