Mitochondrial DNA depletion syndrome 8A
OMIM:612075Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | RRM2B |
|---|---|
| Reference transcript | NM_015713.4 |
| DNA Change | c.850C>T |
| A.A. Change | p.Gln284Stop |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A.Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80. |