Abstract
Poikiloderma with neutropenia (PN) is an ultra-rare autosomal recessive genodermatosis with fewer than 200 patients reported in the literature. It manifests early in infancy with cutaneous alterations that evolve into poikiloderma, and recurrent infections due to non-cycling neutropenia. Additional common signs are palmar-plantar hyperkeratosis, thickened nails, and short stature. Young adults with PN syndrome have an increased risk to develop myelodysplasia and cutaneous tumors. In 2003, PN has been clinically distinguished from the partially overlapping Rothmund-Thomson syndrome, and in 2010 its pathogenic cause has been identified in biallelic alterations of the USB1 gene. All pathogenic variants so far identified in PN patients are predicted to impact on the function of USB1, a protein with phosphodiesterase activity indirectly involved in the splicing process. It is yet unknown why the skin and the hematopoietic tissues are most affected by USB1 mutations.
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References
Clericuzio C, Harutyunyan K, Jin W et al (2011) Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A 155A:337–342
Colombo EA, Bazan JF, Negri G et al (2012) 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 7:7
Concolino D, Roversi G, Muzzi GL et al (2010) Clericuzio-type Poikiloderma with Neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet A 152A:2588–2594
Erickson RP (1999) Southwestern Athabaskan (Navajo and Apache) genetic diseases. Genet Med 1:151–157
Hilcenko C, Simpson PJ, Finch AJ et al (2013) Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in Poikiloderma with Neutropenia. Blood 121:1028–1038
Mroczek S, Krwawicz J, Kutner J et al (2012) C16orf57, a gene mutated in Poikiloderma with Neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3′ end modification. Genes Dev 26:1911–1925
Shchepachev V, Wischnewski H, Missiaglia E et al (2012) Mpn1, mutated in Poikiloderma with Neutropenia protein 1, is a conserved 3′-to-5′ RNA exonuclease processing U6 small nuclear RNA. Cell Rep 2:855–865
Volpi L, Roversi G, Colombo EA et al (2010) Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type Poikiloderma with Neutropenia gene. Am J Hum Genet 86:72–76
Wang LL, Gannavarapu A, Clericuzio CL et al (2003) Absence of RECQL4 mutations in Poikiloderma with Neutropenia in Navajo and non-Navajo patients. Am J Med Genet A 118A:299–301
Wang LL, Clericuzio C, Larizza L (2017) Poikiloderma with Neutropenia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N (eds) GeneReviews® [Internet]. University of Washington, Seattle, Seattle; 1993–2017
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Colombo, E.A., Larizza, L. (2021). Poikiloderma with Neutropenia. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_87-2
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DOI: https://doi.org/10.1007/978-3-319-66816-1_87-2
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Poikiloderma with Neutropenia- Published:
- 18 June 2021
DOI: https://doi.org/10.1007/978-3-319-66816-1_87-2
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Poikiloderma with Neutropenia- Published:
- 19 August 2020
DOI: https://doi.org/10.1007/978-3-319-66816-1_87-1