Mitochondrial disorders

Gene: ATP5B

I don't know

In the opinion of Helen Brittain (Clinical Fellow, Genomics England) is "There is a lack of clarity over the penetrance, plus also the phenotypes are somewhat disparate (the twins had DD with episodic hyperthermia, whereas the other cases presented with dystonia). A gene:disease association cannot be made at this time".

Created: 23 Nov 2023, 4:47 p.m. | Last Modified: 23 Nov 2023, 4:47 p.m.

Panel Version: 4.113

PMIDs 36239646 & 36860166 report a total of three ATP5B (ATP5F1B) heterozygous variants in three unrelated families. The subjects described in PMID 36239646 were monozygotic twins with de novo variant NM_001686.3: c.1004 T>C, (p.Leu335Pro). They had congenital hypermetabolism and uncoupled oxidative phosphorylation. The affected members of the two families described by PMID 36860166 had early-onset isolated dystonia. The heterozygous ATP5B (ATP5F1B) variants (NM_001686.4: c.1000A>C; p.Thr334Pro & c.1445T>C; p.Val482Ala) were inherited, with a total of four affected individuals and three unaffected carriers (PMID 36860166 figure 1), thereby, it was stated that the condition had incomplete penetrance in these cases.

Created: 7 Nov 2023, 5:37 p.m. | Last Modified: 7 Nov 2023, 5:37 p.m.

Panel Version: 4.112

I don't know

De novo heterozygous missense mutation in a pair of monozygotic twin boys (PMID: 36239646). Functional studies done.

Two different variants recently reported in PMID: 36860166 in patients with early-onset isolated dystonia. One variant is at neighbouring amino acid to the one found above. Functional studies done. However, both variants also found in unaffected family members - incomplete penetrance suggested.

Created: 22 Aug 2023, 3:53 p.m. | Last Modified: 22 Aug 2023, 3:53 p.m.

Panel Version: 4.82

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2

Publications

• 36239646
• 36860166

Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1B

Created: 21 Mar 2018, 12:43 p.m.

Comment on list classification: Candidate gene therefore should remain on the red list.

Created: 26 Feb 2016, 12:42 p.m.

I don't know

no mutation reports in literature;
good candidate gene for mitochondrial complex V (ATP synthase) deficiency

Created: 3 Feb 2016, 6:02 p.m.