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Genetics Home Reference: poikiloderma with neutropenia

  • Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C. Poikiloderma with neutropenia: a novel C16orf57 mutation & clinical diagnostic criteria. Br J Dermatol. 2010 Oct;163(4):866-9. doi: 10.1111/j.1365-2133.2010.09929.x. Epub 2010 Sep 7.

  • Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, Altunay I will will, Cetincelik U, Teti A, Del Fattore A, Luciani M, Sullivan SK, Yan AC, Volpi L, Larizza L. Book C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein & predicted effects of all reported mutations. Orphanet J Rare Dis. 2012 Jan 23;7:7. doi: 10.1186/1750-1172-7-7.

  • Farruggia P, Indaco S, Dufour C, Lanza T, Mosa C, Macaluso A, Milioto M, D’Angelo P, Lanciotti M. Poikiloderma with neutropenia: a case report & review of the literature. J Pediatr Hematol Oncol. 2014 May;36(4):297-300. doi: 10.1097/MPH.0b013e31829f35e7. Review.

  • Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, Packman LC, Shlien A, Campbell P, Kirwan M, Dokal I am, Warren AJ. Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood. 2013 Feb 7;121(6):1028-38. doi: 10.1182/blood-2012-10-461491. Epub 2012 Nov 27.

  • Koparir A, Gezdirici A, Koparir E, Ulucan H, Yilmaz M, Erdemir A, Yuksel A, Ozen M. Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype & literature review. Am J Med Genet A. 2014 Oct;164A(10):2535-40. doi: 10.1002/ajmg.a.36683. Epub 2014 Jul 16.

  • Mroczek S, Dziembowski A. U6 RNA biogenesis and disease association. Wiley Interdiscip Rev RNA. 2013 Sep-Oct;4(5):581-92. doi: 10.1002/wrna.1181. Epub 2013 Jun 14. Review.

  • Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I am am, Ginalski K, Dziembowski A. C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3′ end modification. Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16.

  • Shchepachev V, Azzalin CM. The Mpn1 RNA exonuclease: cellular functions & implication in disease. FEBS Lett. 2013 Jun 27;587(13):1858-62. doi: 10.1016/j.febslet.2013.05.005. Epub 2013 May 15. Review.

  • Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet. 2010 Jan;86(1):72-6. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Erratum in: Am J Hum Genet. 2010 Sep 10;87(3):445.

  • Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I am. Mutations in C16orf57 & normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3.

  • Wang L, Clericuzio C, Larizza L. Poikiloderma with Neutropenia. 2017 Oct 26. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK459118/

  • Source: ghr.nlm.nih.gov

    Updated: June 13, 2018 — 3:30 am

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