| Autor: |
Lee CL; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 112304, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan.; Department of Nursing, Mackay Junior College of Medicine, Nursing and Management, Taipei 112021, Taiwan., Chuang CK; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.; College of Medicine, Fu-Jen Catholic University, New Taipei City 24205, Taiwan., Chen MR; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan., Lin JL; Division of Endocrine & Medical Genetics, Department of Pediatrics, Chang Gung Children's Medical Center, Chang Gung Memorial Hospital, Taoyuan 33378, Taiwan., Chiu HC; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan., Chang YH; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan., Tu YR; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan., Lo YT; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan., Lin HY; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan.; Department of Nursing, Mackay Junior College of Medicine, Nursing and Management, Taipei 112021, Taiwan.; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40402, Taiwan., Lin SP; Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan.; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 11219, Taiwan. |
| Abstrakt: |
Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were found in 22 individuals, with missense (26.1%), nonsense (21.7%), and frameshift (17.4%) variants being the most prevalent. One patient had a KMT2D variant of uncertain significance. The most common clinical characteristics included distinct facial features (100%), intellectual disability (100%), developmental delay (95.7%), speech delay (78.3%), hypotonia (69.6%), congenital heart abnormalities (69.6%), and recurrent infections (65.2%). Other abnormalities included hearing loss (39.1%), seizures (26.1%), cleft palate (26.1%), and renal anomalies (21.7%). This study broadens the mutational and phenotypic spectrum of KS in the Taiwanese population, highlighting the importance of comprehensive genetic testing and multidisciplinary clinical evaluations for diagnosis and treatment. |
