Neurological ciliopathiesGene: C2CD3
Comment on PMID:27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cells
Created: 1 Nov 2018, 6 p.m.
PMID: 27094867 - an additional paper reports compound heterozygous variants in two foetuses from the same family, with a different clinical presentation from the cases in PMID: 24997988: "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." In vitro work on fibroblasts from one of the foetuses, reporting reduced cilia formation.
Created: 25 Jan 2017, 4:19 p.m.
Comment on list classification: Sufficient evidence
Created: 26 Jan 2017, 9:07 a.m.
Comment on list classification: Only two reported patients but supported by mouse model data
Created: 23 Jan 2017, 4:14 p.m.
On current diagnostic panel; no positive families to date. Some evidence for literature, reported in OFD.
Created: 15 Mar 2016, 1:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Orofaciodigital syndrome XIV
Variants in this GENE are reported as part of current diagnostic practice
gene: C2CD3 was added gene: C2CD3 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2CD3 were set to 24997988; 26044959; 27094867 Phenotypes for gene: C2CD3 were set to short-rib polydactyly syndromes (SRPS; MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200)