Mitochondrial Complex I Deficiency, Nuclear Type 24

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

NDUFS4, NDUFS6, NDUFA1, NDUFV1, NDUFS1, NUBPL, NDUFS2, NDUFAF5, NDUFAF2, NDUFS3, FOXRED1, NDUFB3, NDUFS7, NDUFAF1, NDUFS8, NDUFV2, NDUFA11, NDUFB9, NDUFAF3, NDUFAF4, NDUFB11, ND2, NDUFB8, NDUFA6, ELAC2, TIMMDC1, NDUFB10, ND3, ND1, TMEM126B

Drugs

Alpha-tocotrienol quinone ( VINCERINONE )

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A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 24 (MC1DN24) is caused by homozygous mutation in the NDUFB9 gene (601445) on chromosome 8q24. One such family has been reported.

For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.

Clinical Features

Haack et al. (2012) reported 2 brothers with mitochondrial complex I deficiency. The proband had onset in infancy of progressive hypotonia associated with increased serum lactate.

Molecular Genetics

In 2 brothers with mitochondrial complex I deficiency, Haack et al. (2012) identified a homozygous missense mutation in the NDUFB9 gene (L64P; 601445.0001). The mutation, which was found by sequencing of 75 candidate genes in 152 patients with complex I deficiency, segregated with the disorder in the family and was not found in the dbSNP or 1000 Genomes databases or in 200 control chromosomes.