Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

American Journal of Human Genetics

Volumn 86, Issue 1, 2010, Pages 72-76

  Volpi, Ludovica ^a   Roversi, Gaia ^a,b   Colombo, Elisa Adele ^a   Leijsten, Nico ^c   Concolino, Daniela ^d   Calabria, Andrea ^e   Mencarelli, Maria Antonietta ^f   Fimiani, Michele ^f   Macciardi, Fabio ^a   Pfundt, Rolph ^c   Schoenmakers, Eric F P M ^c   Larizza, Lidia ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b NATIONAL CANCER INSTITUTE   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^e INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

^f UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; C16ORF57 GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; NEUTROPENIA; PATHOGENESIS; POIKILODERMA; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EVOLUTION, MOLECULAR; FEMALE; GENOMICS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; NEUTROPENIA; OPEN READING FRAMES; PEDIGREE; ROTHMUND-THOMSON SYNDROME; SEQUENCE ANALYSIS, DNA; SKIN DISEASES;

EID: 73149112435     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.11.014     Document Type: Article

References (12)

1. Clericuzio C., Hoyme H.E., and Asse J.M. Immune deficient poikiloderma: A new genodermatosis. Am. J. Hum. Genet. 49 Suppl (1991) A661
2. Wang L.L., Gannavarapu A., Clericuzio C.L., Erickson R.P., Irvine A.D., and Plon S.E. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. J. Med. Genet. 118A (2003) 299-301
3. Van Hove J.L., Jaeken J., Proesmans M., Boeck K.D., Minner K., Matthijs G., Verbeken E., Demunter A., and Boogaerts M. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am. J. Med. Genet. A 132A (2005) 152-158
4. Mostefai R., Morice-Picard F., Boralevi F., Sautarel M., Lacombe D., Stasia M.J., McGrath J., and Taïeb A. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am. J. Med. Genet. A 146A (2008) 2762-2769
5. Fishelson M., and Geiger D. Exact genetic linkage computations for general pedigrees. Bioinformatics 18 Suppl 1 (2002) S189-S198
6. Silberstein M., Tzemach A., Dovgolevsky N., Fishelson M., Schuster A., and Geiger D. Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am. J. Hum. Genet. 78 (2006) 922-935
7. Génin E., Todorov A.A., and Clerget-Darpoux F. Optimization of genome search strategies for homozygosity mapping: influence of marker spacing on power and threshold criteria for identification of candidate regions. Ann. Hum. Genet. 62 (1998) 419-429
8. Brkanac Z., Spencer D., Shendure J., Robertson P.D., Matsushita M., Vu T., Bird T.D., Olson M.V., and Raskind W.H. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am. J. Hum. Genet. 84 (2009) 692-697
9. Li H., Ruan J., and Durbin R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 18 (2008) 1851-1858
10. Pianigiani E., De Aloe G., Andreassi A., Rubegni P., and Fimiani M. Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. Pediatr. Dermatol. 18 (2001) 422-425
11. Rual J.F., Venkatesan K., Hao T., Hirozane-Kishikawa T., Dricot A., Li N., Berriz G.F., Gibbons F.D., Dreze M., Ayivi-Guedehoussou N., et al. Towards a proteome-scale map of the human protein-protein interaction network. Nature 437 (2005) 1173-1178
12. Colland F., Jacq X., Trouplin V., Mougin C., Groizeleau C., Hamburger A., Meil A., Wojcik J., Legrain P., and Gauthier J.M. Functional proteomics mapping of a human signaling pathway. Genome Res. 14 (2004) 1324-1332