ReviewAmerican journal of medical genetics. Part A2014
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Review in American journal of medical genetics. Part A, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 54 citations in OpenAlex.
- Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.Current issues in molecular biology · 2026Review
- Kinesin-5/Cut7 C-terminal tail phosphorylation influence on motor regulation through multi-scale molecular modeling.Biophysical journal · 2026Article
- Novel nonsense variant of KIF11 in a patient with MCLMR.Human genome variation · 2026Article
- Kinesin genes KIF4A, KIF20A and KIF11 as prognostic biomarkers in lung adenocarcinoma by integrative bioinformatic analysis and experimental validation.Scientific reports · 2025Article
- Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.BMC ophthalmology · 2025Article
- NovelBalkan journal of medical genetics : BJMG · 2025Article
- NovelChildren (Basel, Switzerland) · 2025Article
- Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.BMC ophthalmology · 2024Article
- Eg5 UFMylation promotes spindle organization during mitosis.Cell death & disease · 2024Article
- Regulation of ciliary homeostasis by intraflagellar transport-independent kinesins.Cell death & disease · 2024Review
- Eg5 and Diseases: From the Well-Known Role in Cancer to the Less-Known Activity in Noncancerous Pathological Conditions.Biochemistry research international · 2024Review
- A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry.Case reports in psychiatry · 2024Article
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- Kinesin-5 Eg5 is essential for spindle assembly, chromosome stability and organogenesis in development.Cell death discovery · 2022Article
- Review
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- Expanding the KIF4A-associated phenotype.American journal of medical genetics. Part A · 2021Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 7 institutions in 1 country.
Funding
Abstract
The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on de novo novel mutations of KIF11 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy, and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report, therefore, further expands the clinical and molecular spectrum of KIF11-associated microcephaly.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.