Work

Identification of KIF11 Pathogenic Variant in a Korean Patient with Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome

Year: 2025

Type: article

Abstract: Mutations in KIF11 are known to cause a rare autosomal dominant disease characterized by microcephaly, primary lymphedema, and chorioretinopathy dysplasia (MLCRD).Genetic diagnosis of MLCRD is challenging and often delayed due to the overlapping, variable, and incomplete penetrance of the clinical presentation.In this study, we report the first case of a KIF11 pathogenic variant (c.308+1G>A) in a Korean patient with MLCRD.A 14-year-old boy presented with microcephaly and bilateral retinitis pigmentosa.He had bilateral foot edema at birth, which has resolved.He exhibited variable symptoms, including microcephaly with facial dysmorphism, chorioretinopathy, and foot edema, with no familial history of these symptoms.He was diagnosed with MLCRD at the age of 14 after the identification of a pathogenic variant in KIF11 using whole-genome sequencing.To our knowledge, this is the first case in Korea to demonstrate all the major clinical features of MLCRD.We recommend genetic testing, including KIF11, for patients with congenital microcephaly and a broad range of ocular abnormalities.This report will contribute to a better understanding of the genetic background of Korean patients with MLCRD.

Source: Laboratory Medicine Online

DOI: 10.47429/lmo.2025.15.2.164

Authors: Youn-Ji Hong, Jeehun Lee, Jong-Won Kim, Jiwon Lee, Mi-Ae Jang

Institutions: Samsung Medical Center, Sungkyunkwan University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funders: National Research Foundation, National Research Foundation of Korea, Ministry of Education, Science and Technology