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Updated: May 5, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel nonsense variant of KIF11 in a patient with MCLMR
Yuko Ozaki1, Kyoko Yokoi2, Yasuhisa Nakamura1
1Department of Pediatrics, Nagoya City University West Medical Center, Nagoya, Japan.
Abstract:
Microcephaly with or without chorioretinopathy, lymphedema or mental retardation is a rare KIF11-related disorder. Here we report the case of a patient with microcephaly, lymphedema, nystagmus and familial exudative vitreoretinopathy carrying a novel de novo KIF11 nonsense variant (NM_004523.4:p.Glu123Ter), which is considered pathogenic. This case expands the phenotypic range of KIF11 pathogenic variants and highlights the importance of early ophthalmological evaluation, genetic counseling and family assessment.
Insights
A rare KIF11-related disorder, microcephaly, presents with new genetic findings. This case highlights the importance of early eye exams and genetic evaluation for KIF11 pathogenic variants.
Area of Science:
- Genetics
- Ophthalmology
- Developmental Biology
Background:
- Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare disorder linked to KIF11 gene mutations.
- KIF11 pathogenic variants can lead to a spectrum of developmental abnormalities.
Purpose of the Study:
- To report a novel de novo KIF11 nonsense variant in a patient with microcephaly and related symptoms.
- To expand the known phenotypic spectrum associated with KIF11 pathogenic variants.
Main Methods:
- Case report of a patient with microcephaly, lymphedema, nystagmus, and familial exudative vitreoretinopathy.
- Genetic analysis to identify a novel de novo KIF11 nonsense variant (NM_004523.4:p.Glu123Ter).
Main Results:
- Identification of a novel pathogenic de novo KIF11 nonsense variant (p.Glu123Ter).
- The patient presented with microcephaly, lymphedema, nystagmus, and familial exudative vitreoretinopathy, expanding the KIF11-related disorder phenotype.
Conclusions:
- This case expands the phenotypic range of KIF11 pathogenic variants.
- Early ophthalmological evaluation, genetic counseling, and family assessment are crucial for managing KIF11-related disorders.
