Gene: NFU1 iron-sulfur cluster scaffold; NFU1


Gene Symbol: NFU1
OMIM: 608100
Chromosome location: 2p13.3

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Multiple mitochondrial dysfunctions syndrome 1 || c.622G>T

Phenotype:    Multiple mitochondrial dysfunctions syndrome 1
Dna Change:    c.622G>T
Protein Change:    p.Gly208Cys
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 7
Transcript:    NM_001002755.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANA1 patientNANizon M et al., 2014Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C, Brassier A, Habarou F, Delahodde A, Correia I, Ottolenghi C, de Lonlay P, . Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.. Mitochondrion. 2014; 0(0):
SpainNANA10 patients / 9 unrelated familiesNANavarro-Sastre A et al., 2011Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R, . A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.. Am. J. Hum. Genet.. 2011; 89(5):656-67
SpainNANA10 patients / 9 unrelatedNANavarro-Sastre A et al., 2011Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R, . A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.. Am. J. Hum. Genet.. 2011; 89(5):656-67

References

Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R, A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.Am. J. Hum. Genet.. 2011; 89(5):656-67

Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C, Brassier A, Habarou F, Delahodde A, Correia I, Ottolenghi C, de Lonlay P, Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.Mitochondrion. 2014; 0(0):