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Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia

Bone Marrow Transplantation volume 48, page 153 (2013)Cite this article

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Asai et al.1 reported a boy who they diagnosed to have cerebroretinal microangiopathy with calcifications and cysts (CRMCC) and aplastic anemia, which they successfully treated with hematopoietic SCT (HSCT). Their patient had an Arg282His mutation in the TINF2 gene.

The authors appear to consider CRMCC2 to be synonymous with Revesz syndrome.3 This syndrome belongs to the spectrum of dyskeratosis congenita and is associated with mutations in TINF2.4, 5, 6 In so doing, they seem to follow Briggs et al.7 who speculated that BM suppression, perhaps sometimes progressing to aplastic anemia, might be part of the CRMCC phenotype and that Revesz syndrome might thus be the same as CRMCC, or an allelic variant.

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References

  1. Asai D, Osone S, Imamura T, Sakaguchi H, Nishio N, Kuroda H et al. Allo-SCT in a patient with CRMCC with aplastic anemia using a reduced intensity conditioning regimen. Bone Marrow Transplant 2012; 47: 1126–1127.

    Article  CAS  Google Scholar 

  2. Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki JM, Kivelä T et al. Cerebroretinal microangiopathy with calcifications and cysts. Neurology 2006; 67: 1437–1443.

    Article  CAS  Google Scholar 

  3. Revesz T, Fletcher S, al-Gazali LI, DeBuse P . Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 1992; 29: 673–675.

    Article  CAS  Google Scholar 

  4. Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP . TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008; 82: 501–509.

    Article  CAS  Google Scholar 

  5. Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I . TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008; 112: 3594–3600.

    Article  CAS  Google Scholar 

  6. Sasa G, Ribes-Zamora A, Nelson N, Bertuch A . Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet 2012; 81: 470–478.

    Article  CAS  Google Scholar 

  7. Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A 2008; 146A: 182–190.

    Article  CAS  Google Scholar 

  8. Kajtar P, Mehes K . Bilateral Coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. Am J Med Genet 1994; 49: 374–377.

    Article  CAS  Google Scholar 

  9. Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet 2012; 44: 338–342.

    Article  CAS  Google Scholar 

  10. Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O et al. Mutations in CTC1, encoding the CTS Telomere Maintenance Complex Component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet 2012; 90: 540–549.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatric Neurology, Children’s Castle, Helsinki University Central Hospital, Helsinki, Finland

    T Linnankivi

  2. Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland

    A Polvi, O Mäkitie & A-E Lehesjoki

  3. Department of Medical Genetics and Research Programs Unit, Haartman Institute, Molecular Medicine, University of Helsinki, Helsinki, Finland

    A Polvi & A-E Lehesjoki

  4. Neuroscience Center, University of Helsinki, Helsinki, Finland

    A Polvi & A-E Lehesjoki

  5. Children’s Hospital and Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland

    O Mäkitie

  6. Department of Ophthalmology, Pediatric Ophthalmology Service, Helsinki University Central Hospital, Helsinki, Finland

    T Kivelä

Authors
  1. T Linnankivi
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  2. A Polvi
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  5. T Kivelä
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Correspondence to T Kivelä.

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Linnankivi, T., Polvi, A., Mäkitie, O. et al. Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia. Bone Marrow Transplant 48, 153 (2013). https://doi.org/10.1038/bmt.2012.107

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