Pulmonary arterial hypertensionGene: NFU1
Comment on list classification: There is enough evidence to rate this gene as Green at the next GMS panel update - sufficient number of unrelated cases (>3) supported by a NFU1 deficiency rat model which exhibited PAH.
Created: 26 May 2021, 2:49 p.m. | Last Modified: 26 May 2021, 2:49 p.m.
Panel Version: 2.15
Biallelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe neonatal onset disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, leukodystrophy, lactic acidosis, and early death.
More than 50% of infant patients are found to display significant PAH, which can initially be an isolated and prominent finding (PMID: 22077971; 25918518; 28470589; 31516295; 32669393). Pulmonary samples from NFU1-deficient individuals with PAH showed obstructive vasculopathy with proximal and acinar arterial involvement (PMID: 22077971).
Humanised rare model of NFU1 deficiency showed features of mitochondrial dysfunction comparable to those observed in patients and also developed PAH (PMID: 31461310)
Created: 26 May 2021, 2:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Pulmonary hypertension in early infancy
Gene: nfu1 has been classified as Amber List (Moderate Evidence).
gene: NFU1 was added gene: NFU1 was added to Pulmonary arterial hypertension. Sources: Literature Q2_21_rating tags were added to gene: NFU1. Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 22077971; 25918518; 28470589; 31516295; 32669393; 31461310 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Pulmonary hypertension in early infancy Review for gene: NFU1 was set to GREEN