Clinical utility gene card for: poikiloderma with neutropenia.
作者信息
Larizza Lidia, Negri Gloria, Colombo Elisa Adele, Volpi Ludovica, Sznajer Yves
机构信息
Department of Health Sciences, University of Milan, Milan, Italy.
出版信息
Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.298. Epub 2013 Jan 16.
Abstract
摘要
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Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA.
Cell Rep. 2012 Oct 25;2(4):855-65. doi: 10.1016/j.celrep.2012.08.031. Epub 2012 Sep 27.
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Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia.
Br J Dermatol. 2013 Mar;168(3):665-7. doi: 10.1111/bjd.12016. Epub 2012 Nov 2.
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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.
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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.
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Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
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Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
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Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.
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