ArticleAmerican journal of medical genetics. Part A2021
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Identification of human pathways acting on nuclear non-coding RNAs using the Mirror forward genetic approach.Nature communications · 2025Article
- Disruption of distal appendage protein CEP164 causes skeletal malformation in mice.Biochemical and biophysical research communications · 2024Article
- Syndromic ciliopathy: a taiwanese single-center study.BMC medical genomics · 2024Article
- Thurston Syndrome: An Insight of a Rare Case and Literature Review.International journal of clinical pediatric dentistry · 2024Article
- Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.Journal of hepatology · 2023Article
- Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.Human molecular genetics · 2023Article
- TOPORS as a novel causal gene for Joubert syndrome.American journal of medical genetics. Part A · 2023Article
- Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.Clinical genetics · 2023Article
- Article
- Deletion of CEP164 in mouse photoreceptors post-ciliogenesis interrupts ciliary intraflagellar transport (IFT).PLoS genetics · 2022Article
- Review
- Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.American journal of medical genetics. Part A · 2021Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Oral-facial-digital syndromes (OFDS) are a heterogeneous and rare group of Mendelian disorders characterized by developmental abnormalities of the oral cavity, face, and digits caused by dysfunction of the primary cilium, a mechanosensory organelle that exists atop most cell types that facilitates organ patterning and growth. OFDS is inherited both in an X-linked dominant, X-linked recessive, and autosomal recessive manner. Importantly, though many of the causal genes for OFDS have been identified, up to 40% of OFD syndromes are of unknown genetic basis. Here we describe three children with classical presentations of OFDS including lingual hamartomas, polydactyly, and characteristic facial features found by exome sequencing to harbor variants in causal genes not previously associated with OFDS. We describe a female with hypothalamic hamartoma, urogenital sinus, polysyndactyly, and multiple lingual hamartomas consistent with OFDVI with biallelic pathogenic variants in CEP164, a gene associated with ciliopathy-spectrum disease, but never before with OFDS. We additionally describe two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for an identical TOPORS missense variant, c.29 C>A; (p.Pro10Gln). Heterozygous TOPORS pathogenic gene variants are associated with autosomal dominant retinitis pigmentosa, but never before with syndromic ciliopathy. Of note, both probands are of Dominican ancestry, suggesting a possible founder allele.
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