Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome

American Journal of Medical Genetics

Volumn 132 A, Issue 2, 2005, Pages 152-158

  Van Hove, Johan L K ^a,b   Jaeken, Jaak ^a   Proesmans, Marijke ^a   De Boeck, Kris ^a   Minner, Kristin ^a   Matthijs, Gert ^a   Verbeken, Eric ^a   Demunter, Anouk ^a   Boogaerts, Marc ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF COLORADO   (United States)

Author keywords

Bronchocentric non necrotising granulomatosis; Neutropenia; Neutrophil dysfunction; Poikiloderma; RECQL4

Indexed keywords

RECQ HELICASE;

ARTICLE; BACTERICIDAL ACTIVITY; CASE REPORT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIFFERENTIAL DIAGNOSIS; FACE; FEMALE; GENETIC LINKAGE; GRANULOCYTE FUNCTION; HUMAN; KERATODERMA; LIMB; LUNG GRANULOMA; MALE; NEUTROPENIA; NEUTROPHIL; PACHYONYCHIA; PEDIGREE ANALYSIS; PNEUMONIA; POIKILODERMA; PRIORITY JOURNAL; RESPIRATORY BURST; RESPIRATORY TRACT INFECTION; ROTHMUND THOMSON SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HUMANS; MALE; NEUTROPENIA; PEDIGREE; ROTHMUND-THOMSON SYNDROME; SIBLINGS; SYNDROME;

BACTERIA (MICROORGANISMS);

EID: 11844249949     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30430     Document Type: Article

References (29)

1. Balraj P, Concannon P, Jamal R, Beghini A, Hoe TS, Khoo AS, Volpi L. 2002. An unusual mutation in RECQL4 gene leading to Rothmund-Thomson syndrome. Mut Res 508:99-105.
2. Bellinati-Pires R, Melki SE, Colletto GM, Carneiro-Sampaio MM. 1989. Evaluation of a fluorochrome assay for assessing the bactericidal activity of neutrophils in human phagocytic dysfunctions. J Immunol Methods 119:189-196.
3. Clericuzio C, Hoyme HE, Aase JM. 1991. Immune deficient poikiloderma: A new genodermatosis. Am J Hum Genet 49(Suppl 1):131.
4. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morisette J, Weissenbach J. 1996. A comprehensive map of the human genome based on 5,264 microsatellites. Nature 380:152-154.
5. Erickson RP. 1999. Soutwestern Athabaskan (Navajo and Apache) genetic diseases. Genet Med 1:151-157.
6. Goldstein IM, Roos D, Kapland HB, Weissman G. 1975. Complement and immunoglobins stimulate superoxide production by human leukocytes independently of phagocytosis. J Clin Invest 56:1155-1163.
7. Goldstein IM, Cerqueira M, Lind S, Kapland HB. 1977. Evidence that the superoxide-generating system of human leukocytes is associated with the cell-surface. J Clin Invest 59:249-254.
8. Hoki Y, Araki R, Fujimori A, Ohhata T, Koseki H, Fukumura R, Nakamura M, Takahashi H, Noda Y, Kito S, Abe M. 2003. Growth retardation and skin abnormalities of the Recql4-deficient mouse. Hum Mol Genet 12:2293-2299.
9. Kitao S, Shimamoto A, Gogo M, Miller RW, Smithson WA, Lindor NM, Furuichi Y. 1999. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nature Genet 22:82-84.
10. Knoell KA, Sidhu-Malik NK, Malik RK. 1999. Aplastic anemia in a patient with Rothmund-Thomson syndrome. J Pediatr Hematol Oncol 21:444-446.
11. Leijh PCJ, Van Furth R, Van Zwet TL. 1986. In vitro determination of phagocytosis and intracellular killing by polymorphnuclear and mononuclear phagocytes. In: Weir DM, editor. Handbook of experimental immunology. Vol 2. Oxford: Blackwell, pp 46.1-46.21.
12. Liese JG, Jendrossek V, Jansson A, Petropoulou Th, Kloos S, Gahr M, Belohradsky BH. 1995. Chronic granulomatous disease in adults. Lancet 346:220-223.
13. Narayan S, Fleming C, Trainer AH, Craig JA. 2001. Rothmund-Thomson syndrome with myelodysplasia. Pediatr Dermatol 18:210-212.
14. Nelson RD, Quie P, Simmons RL. 1975. Chemotaxis under agarose: A new and simple method for measuring chemotaxis and spontaneous migration of human polymorphonuclear leukocytes and monocytes. J Immunol 115:1650-1656.
15. Nelson RD, Herron MJ, Schmidtke R, Simmons RL. 1977. Chemiluminescence response of human leukocytes: Influence of medium components on light production. Infect Immun 17:513-520.
16. Pianigiani E, De Aloe G, Andreassi A, Rubegni P, Fimiani M. 2001. Rothmund-Thomson (Thomson-type) and myelodysplasia. Pediatr Dermatol 18:422-425.
17. Piquero-Casals J, Okubo AY, Nico MMS. 2002. Rothmund-Thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma. Pediatr Dermatol 19:312-316.
18. Porter WM, Hardman CM, Abdalla SH, Powles AV. 1999. Haematologic diseases in siblings with Rothmund-Thomson syndrome. Clin Exp Dermatol 24:452-454.
19. Pujol LA, Erickson RP, Heidenreich RA, Cunniff C. 2000. Variable presentation of Rothmund-Thomson syndrome. Am J Med Genet 95:204-207.
20. Rizzari C, Bacchiocchi D, Rovelli A, Biondi A, Cantu'-Rajnoldi A, Uderzo C, Masera G. 1996. Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: A case report. J Pediatr Hematol Oncol 18:96-97.
21. Rothe G, Oser A, Valet G. 1988. Dihydrorhodamin 123: A new flow cytometric indicator for respiratory burst activity in neutrophil granulocytes. Naturwissenschaften 75:354-355.
22. Siitonen HA, Kopra O, Kaariainen H, Haravuori H, Winter RM, Saamanen AM, Peltonen L, Kestila M. 2003. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet 12:2837-2844.
23. Starr DG, McClure JP, Connor JM. 1985. Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. Clin Genet 27:102-104.
24. Tan JS, Watanakunakorn C, Phair JP. 1971. A modified assay of neutrophil function: Use of lysostaphin to differentiate defective phagocytosis from impaired intracellular killing. J Lab Clin Med 78:316-322.
25. Vennos EM, Collins M, James WD. 1992. Rothmund-Thomson syndrome: Review of the world literature. J Am Coll Cardiol 27:750-762.
26. Verbrugh HA, Peters R, Peterson PK, Verhoef J. 1978. Phagocytosis and killing of Staphylococci by human polymorphonuclear and mononulear leukocytes. J Clin Pathol 31:539-545.
27. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. 2001. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 102:11-17.
28. Wang LL, Ganavarapu A, Clericuzio CL, Erickson RP, Irvine AD, Plon SE. 2003a. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet 118A:299-301.
29. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zaekai EH, Plon SE. 2003b. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 95:669-674.