Novel nonsense variant of KIF11 in a patient with MCLMR
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.
Authors
- Kyoko Yokoi (ORCID: https://orcid.org/0000-0002-5972-1131)
- Yuko Ozaki
- Masanori Fujimoto (ORCID: https://orcid.org/0009-0006-2894-9287)
- Kozue KASUKABE
- Takenori Kato (ORCID: https://orcid.org/0000-0003-1050-1987)
- Risako Ishioka
- Yasuhisa Nakamura (ORCID: https://orcid.org/0009-0002-2302-899X)
- Shinji Saitoh
Institutions
- Nagoya City University (JP)
- Nagoya Medical Center (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2026-03-02
- DOI
- https://doi.org/10.1038/s41439-026-00341-7
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Kindai University