Genetic and Phenotypic Spectrum of <i>KMT2D</i> Variants in Taiwanese Case Series of Kabuki Syndrome
Chung-Lin Lee,
Chih-Kuang Chuang,
Ming-Ren Chen,
Ju-Li Lin,
Huei-Ching Chiu,
Ya-Hui Chang,
Yuan-Rong Tu,
Yun-Ting Lo,
Hsiang-Yu Lin,
Shuan-Pei Lin
Affiliations
Chung-Lin Lee
Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan
Chih-Kuang Chuang
Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan
Ming-Ren Chen
Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan
Ju-Li Lin
Division of Endocrine & Medical Genetics, Department of Pediatrics, Chang Gung Children’s Medical Center, Chang Gung Memorial Hospital, Taoyuan 33378, Taiwan
Huei-Ching Chiu
Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan
Ya-Hui Chang
Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan
Yuan-Rong Tu
Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan
Yun-Ting Lo
Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan
Hsiang-Yu Lin
Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan
Shuan-Pei Lin
Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan
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.
