Skeletal ciliopathies

Gene: WDPCP

Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)

Created: 28 Nov 2019, 3:35 p.m. | Last Modified: 28 Nov 2019, 3:35 p.m.

Panel Version: 0.42

PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet.

PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants

PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers.

PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details

3 cases with oralfacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.

Created: 27 Nov 2019, 2:52 p.m. | Last Modified: 27 Nov 2019, 2:53 p.m.

Panel Version: 0.21

From OMIM:
?Bardet-Biedl syndrome 15 - no clinical features reported
?Congenital heart defects, hamartomas of tongue, and polysyndactyly - Syndactyly, fingers 2-3 and Postaxial polydactyly

Created: 11 Jul 2019, 1:35 p.m. | Last Modified: 11 Jul 2019, 1:35 p.m.

Panel Version: 0.5

Confirmed association with Bardet-Biedl Syndrome type 15 in Gene2Phenotype.

Created: 20 Jul 2018, 1:42 p.m.

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
217085

Publications

• 20671153

Comment on list classification: Single patient in OMIM

Created: 17 Dec 2015, 3:01 p.m.