ArticleEuropean journal of human genetics : EJHG2018
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 69 citations in OpenAlex.
- Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.Current issues in molecular biology · 2026Review
- Article
- Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.American journal of human genetics · 2026Article
- KIF14 in cancer biology: implications for diagnosis and therapy.Clinical & experimental metastasis · 2026Review
- Validation of the important role and prognostic value of KIF14 in triple-negative breast cancer.Cancer biology & therapy · 2025Article
- DNA tensiometer reveals catch-bond detachment kinetics of kinesin-1, -2 and -3.bioRxiv : the preprint server for biology · 2025Article
- Article
- Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.American journal of human genetics · 2025Article
- Differential susceptibility to prenatal stress exposure in serotonin transporter-deficient female mice-an epigenetic exploration.Frontiers in neuroscience · 2025Article
- Research progress of kinesin family in neurological diseases.Frontiers in cellular neuroscience · 2025Review
- TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.Nature communications · 2023Article
- Phenotypic continuum of NFU1-related disorders.Annals of clinical and translational neurology · 2022Article
- A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.Pediatric research · 2022Article
- Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Article
- Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.American journal of human genetics · 2022Article
- GGPS1-associated muscular dystrophy with and without hearing loss.Annals of clinical and translational neurology · 2022Article
- Biallelic loss of EMC10 leads to mild to severe intellectual disability.Annals of clinical and translational neurology · 2022Article
- Darwinian Evolution of Intelligence.Frontiers in bioinformatics · 2022Article
- Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.American journal of human genetics · 2021Article
Corrections and comments
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Authors and funding
30 authors at 12 institutions in 7 countries.
Funding
Abstract
Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.Asn83Ilefs*3 and p.Ser1478fs), and two missense substitutions (p.Ser841Phe and p.Gly459Arg). KIF14 is a mitotic motor protein that is required for spindle localization of the mitotic citron rho-interacting kinase, CIT, also mutated in microcephaly. Our results demonstrate the involvement of KIF14 in development and reveal a wide phenotypic variability ranging from fetal lethality to moderate developmental delay and 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.