Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong
| Autor: | Shirley S W Cheng, Stephen T.S. Lam, Edgar W L Hau, Stephanie Ho, Ivan F M Lo, Ho M Luk, Kris P T Yu, Po L So |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Young Adult Asian People Intellectual disability Genetics medicine Humans In patient Abnormalities Multiple Clinical phenotype Child Genetics (clinical) Histone Demethylases business.industry Genetic disorder Infant Newborn Infant medicine.disease Prognosis Dermatology Hematologic Diseases Neoplasm Proteins Natural history DNA-Binding Proteins Phenotype Vestibular Diseases Child Preschool Face Mutation (genetic algorithm) Mutation Hong Kong Female business Kabuki syndrome Follow-Up Studies |
| Zdroj: | American journal of medical genetics. Part AREFERENCES. 185(3) |
| ISSN: | 1552-4833 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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