Clinical and Molecular Characteristics of Korean Patients with Kabuki Syndrome

Overview

Journal J Hum Genet

Specialty Genetics

Date 2024 Jun 1

PMID 38824232

Authors

Ji-Hee Yoon

Soojin Hwang

Hyunwoo Bae

Dohyung Kim

Go Hun Seo

June-Young Koh

Young Seok Ju

Hyo-Sang Do

Soyoung Kim

Gu-Hwan Kim

Ja Hye Kim

Jin-Ho Choi

Beom Hee Lee

Affiliations

Soon will be listed here.

Abstract

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.

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