Clinical Utility Gene Card For: Poikiloderma with Neutropenia

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2013 Jan 17

PMID 23321617

Citations 3

Authors

Lidia Larizza

Gloria Negri

Elisa Adele Colombo

Ludovica Volpi

Yves Sznajer

Affiliations

Soon will be listed here.

Citing Articles

A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.

Colombo E, Carra S, Fontana L, Bresciani E, Cotelli F, Larizza L Sci Rep. 2015; 5:15814.

PMID: 26522474 PMC: 4629135. DOI: 10.1038/srep15814.

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Kury S, Mercier S, Shaboodien G, Besnard T, Barbarot S, Khumalo N Eur J Hum Genet. 2015; 24(5).

PMID: 26443268 PMC: 4930101. DOI: 10.1038/ejhg.2015.205.

Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.

Patil P, Uechi T, Kenmochi N RNA Biol. 2015; 12(4):426-34.

PMID: 25849198 PMC: 4615382. DOI: 10.1080/15476286.2015.1017240.

References

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Volpi L, Roversi G, Colombo E, Leijsten N, Concolino D, Calabria A . Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet. 2009; 86(1):72-6. PMC: 2801743. DOI: 10.1016/j.ajhg.2009.11.014. View

Shchepachev V, Wischnewski H, Missiaglia E, Soneson C, Azzalin C . Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. Cell Rep. 2012; 2(4):855-65. DOI: 10.1016/j.celrep.2012.08.031. View

Larizza L, Roversi G, Volpi L . Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010; 5:2. PMC: 2826297. DOI: 10.1186/1750-1172-5-2. View

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Wang L, Gannavarapu A, Clericuzio C, Erickson R, Irvine A, Plon S . Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A. 2003; 118A(3):299-301. DOI: 10.1002/ajmg.a.10057. View

Tanaka A, Morice-Picard F, Lacombe D, Nagy N, Hide M, Taieb A . Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Am J Med Genet A. 2010; 152A(6):1347-8. DOI: 10.1002/ajmg.a.33455. View

Porter W, Hardman C, Abdalla S, Powles A . Haematological disease in siblings with Rothmund-Thomson syndrome. Clin Exp Dermatol. 1999; 24(6):452-4. DOI: 10.1046/j.1365-2230.1999.00530.x. View

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Concolino D, Roversi G, Muzzi G, Sestito S, Colombo E, Volpi L . Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet A. 2010; 152A(10):2588-94. DOI: 10.1002/ajmg.a.33600. View

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Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kucinski I, Ginalski K . C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. Genes Dev. 2012; 26(17):1911-25. PMC: 3435495. DOI: 10.1101/gad.193169.112. View

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Altunay I, Fisek N, Gokdemir G, Sakiz D, Cetincelik U . Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome. Int Wound J. 2010; 7(6):531-5. PMC: 7951505. DOI: 10.1111/j.1742-481X.2010.00734.x. View

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Colombo E, Bazan J, Negri G, Gervasini C, Elcioglu N, Yucelten D . Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. Orphanet J Rare Dis. 2012; 7:7. PMC: 3315733. DOI: 10.1186/1750-1172-7-7. View

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Rodgers W, Ancliff P, Ponting C, Sanchez-Pulido L, Burns S, Hayman M . Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. Br J Dermatol. 2012; 168(3):665-7. DOI: 10.1111/bjd.12016. View

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Arnold A, Itin P, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C . Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol. 2010; 163(4):866-9. DOI: 10.1111/j.1365-2133.2010.09929.x. View

17.

Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M . Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. Eur J Med Genet. 2011; 55(1):8-11. DOI: 10.1016/j.ejmg.2011.07.004. View