Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: CEP55

I don't know

PMID: 28264986 - 1 family (3 fetus/infants) with a homozygous PTC and MARCH syndrome (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly). Postmorten MRI had no mention of molar tooth sign (MTS). Zebrafish model showed gross developmental defects, no mention of ciliopathy phenotypes.

PMID: 28295209 - 1 family (2 fetuses) with Meckel-gruber syndrome and a homozygous PTC. No polydactyly but encephalocele present, healthy sibling was heterozygous for the variant.

PMID: 32100459 - 5 unrelated families (7 patients), all share a recurring missense (p.Glu24Lys) in trans with a PTC. MRI performed on 6 patients did not mention MTS. Aurthors speculate the chet missense/PTC is a milder phenotype.

Summary: 2 reports of ciliopathy-based phenotype, both with bilallelic for PTCs.

Created: 4 May 2020, 6:09 a.m. | Last Modified: 4 May 2020, 6:09 a.m.

Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500

Publications

• PMID: 28264986
• 28295209
• 32100459

Green List (high evidence)

Two unrelated families and animal model.
Sources: Expert Review

Created: 19 Dec 2019, 7:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500

Publications

• 28295209
• 28264986