ArticleClinical genetics2016
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Article in Clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Structure Makes a Difference: IFT Complex in Ciliary Function and Ciliopathy.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome.Human molecular genetics · 2025Article
- Exploring the Regulatory Interaction of Differentially Expressed Proteins in Cleft Palate Induced by Retinoic Acid.Protein and peptide letters · 2025Article
- Population dynamics of potentially harmful haplotypes: a pedigree analysis.BMC genomics · 2024Article
- Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.Human molecular genetics · 2023Article
- Forkhead transcription factor FKH-8 cooperates with RFX in the direct regulation of sensory cilia ineLife · 2023Article
- IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.PLoS genetics · 2023Article
- Primary cilia and actin regulatory pathways in renal ciliopathies.Frontiers in nephrology · 2023Review
- Paralog-specific TTC30 regulation of Sonic hedgehog signaling.Frontiers in molecular biosciences · 2023Article
- A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.Annals of human genetics · 2022Article
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- Intraflagellar Transport Proteins as Regulators of Primary Cilia Length.Frontiers in cell and developmental biology · 2021Review
- Genes and molecular pathways underpinning ciliopathies.Nature reviews. Molecular cell biology · 2017Review
- Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Journal of medical genetics · 2017Review
- Ciliopathies.Cold Spring Harbor perspectives in biology · 2017Review
- A review of skeletal dysplasia research in India.Journal of postgraduate medicineReview
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 4 countries.
Funding
Abstract
The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skeletal dysplasia and brachymesophalangia was explored. Homozygosity mapping and exome sequencing led to the identification of a homozygous mutation in IFT57, which encodes a protein implicated in ciliary transport. The mutation caused splicing anomalies with reduced expression of the wild-type transcript and protein. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects' fibroblasts compared with controls. Sanger sequencing of IFT57 in 13 OFDS subjects and 12 subjects with Ellis-Van Creveld syndrome was negative. This report identifies the implication of IFT57 in human pathology and highlights the first description of a ciliary transport defect in OFDS, extending the genetic heterogeneity of this subgroup of ciliopathies.
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Registered trials
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