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Am J Med Genet A. 2016 Jun;170(6):1613-21. doi: 10.1002/ajmg.a.37634. Epub 2016 Mar 30.

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Author information

1
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
2
Department of Haematology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
3
Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.

Abstract

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.

KEYWORDS:

Kabuki syndrome; clinical variability; lysine (K)-specific demethylase 6A; skin allergic manifestations

PMID:
27028180
DOI:
10.1002/ajmg.a.37634
[Indexed for MEDLINE]

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