De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
|Title||De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.|
|Publication Type||Journal Article|
|Year of Publication||2016|
|Authors||Yang P, Tan H, Xia Y, Yu Q, Wei X, Guo R, Peng Y, Chen C, Li H, Mei L, Huang Y, Liang D, Wu L|
|Journal||Am J Med Genet A|
|Date Published||2016 Jun|
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.
|Alternate Journal||Am. J. Med. Genet. A|