Renal Ciliopathies and Nephronophthisis

Gene: KIAA0753

Red List (low evidence)

Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype, one with OFD, and one with Jeune. Only the individual with OFD is reported to have had renal involvement (hydronephrosis) which may or may not be considered part of a ciliopathy phenotype.
Sources: Expert list

Created: 24 May 2020, 11:11 a.m. | Last Modified: 17 Jul 2021, 7:42 a.m.

Panel Version: 0.255

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib skeletal dysplasia; Orofaciodigital syndrome XV, MIM# 617127; Jeune ATD

Publications

• 29138412
• 26643951
• 31816441

Green List (high evidence)

PMID: 31816441 - 1 patient with a homozygous PTC. No MTS on MRI at 8 months old, clearly stated by authors. Patient had a skeletal dysplasia. Authors summerize reports, no obvious genotype-phenotype correlation.

PMID: 28220259 - 2 chet (missense/inframe del) siblings with JS. Both siblings showed the MTS on MRI, one also had additional hypoplasia of cerebellar vermis. Functional studies on patient cells demonstrated significantly less cilia.

PMID: 29138412 - All patients had brachydactyly.
Patient 1 and 2 (cousins) - showed MTS on MRI, inferior vermis dysplasia. Patients had a homozygous PTC.
Patient 3 - no MTS, but described as having brain features consistent with JS.
Patient 4 - vermis dysplasia, no mention of MTS. Not regarded as having JS, diagnosed with short-rib thoracic dyplasia. Patient was chet for two PTCs.
Zebrafish null models have skeletal abnormalities, no mention of brain analysis/abnormalities

PMID: 26643951 - 1 chet patient (PTC/splice causing fs) with OFD syndrome. MRI shows MTS and vermis hypoplasia
Sources: Expert list

Created: 13 May 2020, 3:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Orofaciodigital syndrome XV 617127; Joubert syndrome

Publications

• PMID: 31816441
• 28220259
• 29138412
• 26643951