A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR

Abstract

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 152950) is a rare autosomal dominantly inherited syndrome. Mutations in the kinesin family member 11 (KIF11) gene have been associated with this condition. Here, we report a de novo novel heterozygous missense mutation in exon 12 of the KIF11 gene [c.1402T>G; p.(Leu468Val)] in a boy with 22q11.2 microdeletion syndrome. His major features were microcephaly, ventricular septal defect, congenital lymphedema of the feet, and distinct facial appearance including upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with a thin upper lip, pointed chin, and prominent ears. His right eye was enucleated due to subretinal hemorrhage and retinal detachment at age 3 months. Lacunae of chorioretinal atrophy and the pale optic disc were present in the left eye. He also had a de novo 1.6-Mb microdeletion in the Di George/VCFS region of chromosome 22q11.2 in SNP array, which was confirmed by FISH analysis. In this study, for the first time, we describe the co-occurrence of a KIF11 mutation and 22q11.2 deletion syndrome in a patient with MCLMR.

ASPM combined with KIF11 promotes the malignant progression of hepatocellular carcinoma via the Wnt/β‑catenin signaling pathway

“…KIF11 serves an essential role in cell mitosis ( 22 ) and the transport of secreted proteins ( 23 ). It has been demonstrated that KIF11 mutation causes autosomal dominant familial exudative vitreoretinopathy, as well as microcephaly, with or without choroidal retinopathy, lymphedema or hypophrenia ( 24 , 25 ). KIF11 acts as an oncogene in tumors and is associated with a poor prognosis in breast cancer ( 26 ).…”