Mitochondrial disease

Gene: FDX2

Green List (high evidence)

6 apparently unrelated families with 3 different homozygous variants (c.1A>T; p.Pro144Leu; p.Met4Ile) with a rhabdomyolysis/mitochondrial myopathy phenotype. Molecular investigation of patient cells demonstrates mitochondrial dysfunction. Only 2 families with p.Pro144Leu have been reported with the additional features of optic atrophy and reversible leukoencephalopathy. The phenotype reported in OMIM is mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, but there is limited evidence that optic atrophy and leukoencephalopathy are prominent features of the phenotype.

Created: 24 Apr 2022, 6:53 a.m. | Last Modified: 24 Apr 2022, 6:53 a.m.

Panel Version: 0.796

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900; inborn mitochondrial myopathy MONDO:0009637

Publications

• 24281368
• 28803783
• 30010796
• 35079622
• 34905296

Green List (high evidence)

6 apparently unrelated families with 3 different homozygous variants (c.1A>T; p.Pro144Leu; p.Met4Ile) with a rhabdomyolysis/mitochondrial myopathy phenotype. Molecular investigation of patient cells demonstrates mitochondrial dysfunction. Only 2 families with p.Pro144Leu have been reported with the additional features of optic atrophy and reversible leukoencephalopathy. The phenotype reported in OMIM is mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, but there is limited evidence that optic atrophy and leukoencephalopathy are prominent features of the phenotype.

Created: 21 Apr 2022, 3:28 a.m. | Last Modified: 21 Apr 2022, 3:28 a.m.

Panel Version: 0.13132

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inborn mitochondrial myopathy MONDO:0009637

Publications

• 24281368
• 28803783
• 30010796
• 35079622
• 34905296