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

@article{Yang2016DeNE,
  title={De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.},
  author={Pu Yang and Hu Tan and Yan Xia and Qian Yu and Xianda Wei and Ruolan Guo and Y. N. Peng and Chen Chen and Haoxian Li and Libin Mei and Yanru Huang and Desheng Liang and Lingqian Wu},
  journal={American journal of medical genetics. Part A},
  year={2016},
  volume={170 6},
  pages={
          1613-21
        }
}
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… CONTINUE READING

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