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Clinical and molecular characteristics of Korean patients with Kabuki syndrome
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Clinical and molecular characteristics of Korean patients with Kabuki syndrome
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Journal Article
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
2024
Overview
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.
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.
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.
This study enhances the understanding of the clinical and genetic characteristics of KS.
Publisher
Nature Publishing Group
Subject
Abnormalities, Multiple - genetics
/ Abnormalities, Multiple - pathology
/ Child
/ Children
/ DNA-Binding Proteins - genetics
/ Eyelid
/ Female
/ Fetuses
/ Hematologic Diseases - genetics
/ Hematologic Diseases - pathology
/ Histone Demethylases - genetics
/ Humans
/ Infant
/ Intellectual Disability - genetics
/ Intellectual Disability - pathology
/ Male
/ Mutation
/ Neoplasm Proteins - genetics
/ Republic of Korea - epidemiology
/ Vestibular Diseases - genetics
