ArticleAnnals of human genetics2022
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
Article in Annals of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 6 citations in OpenAlex.
- Profiling truncated variants of TCTN1 unveils the essential role of its integrity for ciliogenesis.iScience · 2025Article
- Article
- A Novel Variant in the Cyto-Tail ofMolecular syndromology · 2024Article
- Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.European journal of human genetics : EJHG · 2023Article
- A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.Annals of human genetics · 2022Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures. Exome sequencing analysis revealed a novel homozygous splice site variant c.257-1G>A in TCTN3 that segregated with disease. This homozygous splice site variant in TCTN3 is most likely the underlying cause of the atypical form of OFD4 observed in this family. Our results contribute to the phenotypic spectrum of TCTN3 associated ciliopathies and will facilitate better clinical diagnosis.
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