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Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong
Author(s) -
So Po L.,
Luk Ho M.,
Yu Kris P. T.,
Cheng Shirley S.W.,
Hau Edgar W. L.,
Ho Stephanie K. L.,
Lam Stephen T. S.,
Lo Ivan F. M.
Publication year - 2021
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.62003
Subject(s) - kabuki , kabuki syndrome , chinese family , intellectual disability , medicine , genetics , pediatrics , dermatology , gene , biology , psychiatry , art , visual arts
Kabuki syndrome (OMIM #147920 and 300867) is a rare genetic disorder characterized by a distinctive facial gestalt, intellectual disability and multiple congenital anomalies. We summarized the clinical features and molecular findings of the Kabuki syndrome (KS) patients diagnosed in Hong Kong between January 1991 and December 2019. There were 21 molecularly confirmed KS. Twenty of them were due to pathogenic KMT2D variants and one patient had KDM6A deletion. Nine KMT2D variants were novel. The clinical phenotype of our Chinese KS patients was largely comparable with that reported in patients of other ethnicities. This study expands the mutation spectrum but also provide important natural history information of Chinese KS in literature.