RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Neurology

Volumn 76, Issue 23, 2011, Pages 2032-2034

  Fratter, C ^a   Raman, P ^b   Alston, C L ^b   Blakely, E L ^b   Craig, K ^b   Smith, C ^a   Evans, J ^a   Seller, A ^a   Czermin, B ^c   Hanna, M G ^d   Poulton, J ^e   Brierley, C ^f   Staunton, T G ^g   Turnpenny, P D ^h   Schaefer, A M ^b   Chinnery, P F ^b   Horvath, R ^b   Turnbull, D M ^b   Gorman, G S ^b   Taylor, R W ^b  

^a CHURCHILL HOSPITAL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c Medical Genetic Centre   (Germany)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f WEST SUFFOLK HOSPITAL   (United Kingdom)

^g NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^h ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROTEIN P53; RIBONUCLEOTIDE REDUCTASE;

ADOLESCENT; ADULT; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; EXON; FAMILIAL DISEASE; FEMALE; GENE; GENE DELETION; GENE SEGREGATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NOTE; PRESCHOOL CHILD; PRIORITY JOURNAL; RRM2B GENE;

EID: 79958743355     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31821e558b     Document Type: Article

References (7)

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2. Fratter C, Gorman GS, Stewart JD, et al. The clinical, histochemical and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology 2010;74:1619-1626.
3. Bourdon A, Minai L, Serre V, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776-780. (Pubitemid 46848590)
4. Bornstein B, Area E, Flanigan KM, et al. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord 2008;18:453-459.
5. Spinazzola A, Invernizzi F, Carrara F, et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009;32:143-158.
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7. Chinnery PF, Zeviani M. 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, the Netherlands. Neuromuscul Disord 2008;18:259-267.