Joubert syndrome and other neurological ciliopathies

Gene: KIAA0753

Comment when marking as ready: Sufficient number of families with neurological features consistent with ciliopathy/JS.

Created: 14 May 2020, 6:47 a.m. | Last Modified: 14 May 2020, 6:47 a.m.

Panel Version: 0.56

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