Mitochondrial disease

Gene: PNPT1

Green List (high evidence)

6 additional unrelated cases identified by Pennisi et al., 2022 (PMID: 33199448) with biallelic variants in this gene.

Created: 1 Apr 2022, 10:25 a.m. | Last Modified: 1 Apr 2022, 10:25 a.m.

Panel Version: 0.12453

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 13, OMIM:614932

Publications

• 33199448

I don't know

Three families reported with heterozygous variants and SCA25. Incomplete penetrance in one of the families. In the third family, the variant was inherited from an asymptomatic 80+ year old. Note bi-allelic variants in this gene cause a mitochondrial disorder. Exact mechanism through which mono-allelic variants cause SCA25 not elucidated: authors speculate abnormal accumulation of mitochondrial RNA with subsequent leakage into the cytosol that may trigger a type 1 interferon response leading to neuroinflammation with neuronal dysfunction or neuronal loss.

Created: 13 Jul 2022, 11:56 p.m. | Last Modified: 13 Jul 2022, 11:56 p.m.

Panel Version: 1.114

Comment when marking as ready: Those initially presenting with deafness may be at risk of progressive complex neurological course.

Created: 21 Feb 2020, 8:41 p.m. | Last Modified: 21 Feb 2020, 8:41 p.m.

Panel Version: 0.1418

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 25, MIM# 608703

Publications

• 35411967

Green List (high evidence)

Well-reported in patients with mitochondrial dysfunction

Created: 20 Feb 2020, 9:58 p.m. | Last Modified: 20 Feb 2020, 9:58 p.m.

Panel Version: 0.85

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)

Publications

• PMID:31752325
• PMID: 28645153