Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Autor: Yoon JH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea.; Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University of School of Medicine, Seoul, Republic of Korea., Hwang S; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Bae H; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Kim D; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Seo GH; Division of Medical genetics, 3billion Inc., Seoul, Republic of Korea., Koh JY; Inocras Inc., Daejeon, Republic of Korea., Ju YS; Inocras Inc., Daejeon, Republic of Korea., Do HS; Asan Institute for Life Sciences, Asan Medical Center, Seoul, Republic of Korea., Kim S; Asan Institute for Life Sciences, Asan Medical Center, Seoul, Republic of Korea., Kim GH; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Kim JH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Choi JH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Lee BH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. beomhee.lee@amc.seoul.kr.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea. beomhee.lee@amc.seoul.kr.
Jazyk: angličtina
Zdroj: Journal of human genetics [J Hum Genet] 2024 Sep; Vol. 69 (9), pp. 417-423. Date of Electronic Publication: 2024 Jun 01.
DOI: 10.1038/s10038-024-01258-1
Abstrakt: Introduction: Kabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad persistence, postnatal growth retardation, and intellectual disabilities. Heterozygous variants of the KMT2D and KDM6A genes are major genetic causes of KS. This study aimed to report the clinical and genetic characteristics of KS.
Methods: This study included 28 Korean patients (14 boys and 14 girls) with KS through molecular genetic testing, including direct Sanger sequencing, whole-exome sequencing, or whole-genome sequencing.
Results: The median age at clinical diagnosis was 18.5 months (IQR 7-58 months), and the median follow-up duration was 80.5 months (IQR 48-112 months). Molecular genetic testing identified different pathogenic variants of the KMT2D (n = 23) and KDM6A (n = 3) genes, including 15 novel variants. Patients showed typical facial features (100%), such as long palpebral fissure and eversion of the lower eyelid; intellectual disability/developmental delay (96%); short stature (79%); and congenital cardiac anomalies (75%). Although 71% experienced failure to thrive in infancy, 54% of patients showed a tendency toward overweight/obesity in early childhood. Patients with KDM6A variants demonstrated severe genotype-phenotype correlation.
Conclusion: This study enhances the understanding of the clinical and genetic characteristics of KS.
(© 2024. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)
Databáze: MEDLINE
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