ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2022
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 7 citations in OpenAlex.
- Human-biasedLife science alliance · 2026Article
- Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF.European journal of human genetics : EJHG · 2026Review
- Stromme syndrome presenting with classic microcephaly and apple-peel intestinal atresia in a neonate: a genetically confirmed case report.Maternal health, neonatology and perinatology · 2026Article
- TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriers.Stem cell reports · 2025Article
- Centromere Protein F in Tumor Biology: Cancer's Achilles Heel.Cancer medicine · 2025Review
- Early increased cell proliferation compensates subsequent hypoplasia of the ossicle.Frontiers in cell and developmental biology · 2025Article
- Novel Loss of Function Variants inGenes · 2023Article
- Review
- Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
Corrections and comments
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Authors and funding
18 authors at 9 institutions in 5 countries.
Funding
Abstract
Biallelic loss-of-function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males and one female) carrying CENPF biallelic variants, including two missense variants in homozygous state and four LoF variants, were identified by exome sequencing. All individuals had variable degree of developmental delay/intellectual disability and microcephaly (ranging from -2.9 SDS to -5.6 SDS) and a recognizable pattern of dysmorphic facial features including inverted-V shaped interrupted eyebrows, epicanthal fold, depressed nasal bridge, and pointed chin. Although one of the cases had duodenal atresia, all four individuals did not have the combination of internal organ malformations of Strømme syndrome (intestinal atresia and anterior eye segment abnormalities). Immunofluorescence analysis on skin fibroblasts on one of the four cases with the antibody for ARL13B that decorates primary cilia revealed shorter primary cilia that are consistent with a ciliary defect. This case-series of individuals with biallelic CENPF variants suggests the spectrum of clinical manifestations of the disorder that may be related to CENPF variants is broad and can include phenotypes lacking the cardinal features of Strømme syndrome.
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Registered trials
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