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

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.