Skeletal ciliopathies

Gene: 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.

I don't know

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.

Red List (low evidence)

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

Phenotypes
Orofaciodigital syndrome XIV

Publications

• 24997988

Variants in this GENE are reported as part of current diagnostic practice