Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome
Year: 2024
Type: article
Study design: Observational Study
Abstract: 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.
Source: Diagnostics
Institutions: National Yang Ming Chiao Tung University, Mackay Memorial Hospital, Mackay Medical University, Mackay Junior College of Medicine, Nursing and Management, Fu Jen Catholic University, Chang Gung Memorial Hospital, Taoyuan Chang Gung Memorial Hospital, Linkou Chang Gung Memorial Hospital, Chang Gung Children's Hospital, China Medical University, China Medical University Hospital, National Taipei University of Nursing and Health Science
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,955
Awards: G1022499463, G2364594108, G3149592006, G4203584116, G522302956, Using in Vitro and in Vivo Systems to Study the Correlation between Various Mutation Points of Ids2 and Mucopolysaccharidosis( III ), To Verify the Efficiencies for Mps I and Iva Mutant Novel Gene Expressions and to Study the Genotype-Phenotype Correlations in Particular Knockout Zebrafish Lines( I ), To Verify the Gold Standard Used for the Confirmative Diagnosis of Mucopolysaccharidosis (Mps) and to Study the Effectiveness of Enzyme Replacement Therapy Accompanied by Hematopoietic Stem Cell Transplantation for Mps II Infants, G715103156
OpenAlex ID: W4401973397