Skeletal ciliopathies

Gene: IFT52

PMID:26880018 (2016, included in Alice's review) examined a child from a consanguineous Indian family who had skeletal dysplasia and additional phenotypes including short hands and feet and postaxial polydactyly. WES revealed a nonsense variant p.R142X in IFT52. The proband's unaffected consanguineous parents were heterozygous for the mutation.

PMID:27466190 (Zhang 2016, from Zornitza's review) report a non-consanguineous family with two fetuses affected by MIM:617102 without polydactyly, and compound heterozygous variant in IFT52. The authors also present functional data for ciliopathies.

PMID:30242358 (2018, Chen et al) provide a third case: They identified a homozygous missense variation in IFT52, c.556A>G (p.T186A), carried by a patient with syndromic ciliopathy, presenting mild SRTD (skeletal ciliopathy) and Liber congenital amaurosis. The variant was absent in both unaffected siblings. This report expands ocular phenotypes of IFT52 mutation-caused ciliopathy to include retinal ciliopathy, and also provides functional information for the role of IFT52 in primary ciliary function.

Created: 1 Nov 2018, 2:44 p.m.

Comment on list classification: Updated rating from Red to Green: The 2018 paper (PMID:30242358) takes the number of literature cases of IFT52 homozgyous variants causative for ciliopathy to THREE. Plus functional evidence for role of IFT52 in cilial function (PMIDs:27466190 and 30242358).

Created: 1 Nov 2018, 2:36 p.m.

Green List (high evidence)

Note additional case reported in this paper, including functional data.

Created: 4 Aug 2018, 8:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib polydactyly syndrome

Publications

• 27466190

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

Red List (low evidence)

Only reported in two individual cases

Created: 25 Jan 2017, 1:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 16 with or without polydactyly 617102

Publications

• 26880018