Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

Human Molecular Genetics

Volumn 12, Issue 21, 2003, Pages 2837-2844

  Siitonen, H Annika ^a   Kopra, Outi ^a   Kääriäinen, Helena ^b,c,d   Haravuori, Henna ^a   Winter, Robin M ^e   Säämänen, Anna Marja ^c   Peltonen, Leena ^a,f   Kestilä, Marjo ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b The Family Federation of Finland ^*  (Finland)

^c UNIVERSITY OF TURKU   (Finland)

^d TURKU UNIVERSITY HOSPITAL   (Finland)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; HELICASE;

ARTICLE; BLOOM SYNDROME; BONE DEVELOPMENT; BONE MALFORMATION; CANCER RISK; CANCER SUSCEPTIBILITY; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FEMALE; FINLAND; GENE DELETION; GENE EXPRESSION; GENETIC PREDISPOSITION; HUMAN; INFANTILE DIARRHEA; JOINT DISLOCATION; LIMB MALFORMATION; MALE; NONSENSE MUTATION; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; OSTEOSARCOMA; PALATE MALFORMATION; PATELLA; PHENOTYPE; PRIORITY JOURNAL; RADIUS APLASIA; ROTHMUND THOMSON SYNDROME; SHORT STATURE; SKELETON MALFORMATION; WERNER SYNDROME;

ADENOSINE TRIPHOSPHATASES; ANIMALS; BASE SEQUENCE; BLOOM SYNDROME; BONE AND BONES; CELLS, CULTURED; DNA HELICASES; EXONS; FIBROBLASTS; HUMANS; IN SITU HYBRIDIZATION; INTESTINES; MICE; MOLECULAR SEQUENCE DATA; MUTATION; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME; WERNER SYNDROME;

EID: 0242609126     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg306     Document Type: Article

References (28)

1. Kääriäinen, H., Ryöppy, S. and Norio, R. (1989) RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am. J. Med. Genet., 33, 346-351.
2. Norio, R. (2003) Finnish Disease Heritage I: characteristics, causes, background. Hum. Genet., 112, 441-456.
3. Norio, R. (2003) Finnish Disease Heritage II: population prehistory and genetic roots of Finns. Hum. Genet., 112, 457-469.
4. Norio, R. (2003) The Finnish Disease Heritage III: the individual diseases. Hum. Genet., 112, 470-526.
5. Vargas, F.R., de Almeida, J.C., Llerena Junior, J.C. and Reis, D.F. (1992) RAPADILINO syndrome. Am. J. Med. Genet., 44, 716-719.
6. Jam, K., Fox, M. and Crandall, B.F. (1999) RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia. Teratology, 60, 37-38.
7. Kant, S.G., Baraitser, M., Milla, P.J. and Winter, R.M. (1998) Rapadilino syndrome-a non-Finnish case. Clin. Dysmorphol., 7, 135-138.
8. Hilhorst-Hofstee, Y., Shah, N., Atherton, D., Harper, J.I., Milla, P. and Winter, R.M. (2000) Radial aplasia, poikiloderma and auto-immune enterocolitis-new syndrome or severe form of Rothmund-Thomson syndrome? Clin. Dysmorphol., 9, 79-85.
9. Kitao, S., Shimamoto, A., Goto, M., Miller, R.W., Smithson, W.A., Lindor, N.M. and Furuichi, Y. (1999) Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat. Genet., 22, 82-84.
10. Lindor, N.M., Furuichi, Y., Kitao, S., Shimamoto, A., Arndt, C. and Jalal, S. (2000) Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am. J. Med. Genet., 90, 223-228.
11. Wang, L.L., Worley, K., Gannavarapu, A., Chintagumpala, M.M., Levy, M.L. and Plon, S.E. (2002) Intron size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am. J. Hum. Genet., 71, 165-167.
12. Balraj, P., Concannon, P., Jamal, R., Beghini, A., Hoe, T.S., Khoo, A.S. and Volpi, L. (2002) An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. Mutat. Res., 508, 99-105.
13. Wang, L.L., Gannavarapu, A., Kozinetz, C.A., Levy, M.L., Lewis, R.A., Chintagumpala, M.M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R.P. et al. (2003) Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J. Natl Cancer Inst., 95, 669-674.
14. Kitao, S., Lindor, N.M., Shiratori, M., Furuichi, Y. and Shimamoto, A. (1999) Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics, 61, 268-276.
15. Mohaghegh, P. and Hickson, I.D. (2001) DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. Hum. Mol. Genet., 10, 741-746.
16. Kitao, S., Ohsugi, I., Ichikawa, K., Goto, M., Furuichi, Y. and Shimamoto, A. (1998) Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics, 54, 443-452.
17. Sun, H., Karow, J.K., Hickson, I.D. and Maizels, N. (1998) The Bloom's syndrome helicase unwinds G4 DNA. J. Biol. Chem., 273, 27587-27592.
18. Fry, M. and Loeb, L.A. (1999) Human Werner syndrome DNA helicase unwinds tetrahelical structures of the fragile X syndrome repeat sequence d(CGG)n. J. Biol. Chem., 274, 12797-12802.
19. Constantinou, A., Tarsounas, M., Karow, J.K., Brosh, R.M., Bohr, V.A., Hickson, I.D. and West, S.C. (2000) Werner's syndrome protein (WRN) migrates Holliday junctions and co-localizes with RPA upon replication arrest. EMBO Rep., 1, 80-84.
20. Yamabe, Y., Sugimoto, M., Satoh, M., Suzuki, N., Sugawara, M., Goto, M. and Furuichi, Y. (1997) Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. Biochem. Biophys. Res. Commun., 236, 151-154.
21. Lehmann, A.R. (2001) The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev., 15, 15-23.
22. Wang, L.L., Levy, M.L., Lewis, R.A., Chintagumpala, M.M., Lev, D., Rogers, M. and Plon, S.E. (2001) Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am. J. Med. Genet., 102, 11-17.
23. Wang, L.L., Levy, M.L., Lewis, R.A., Gannavarapu, A., Stockton, D.W., Burks, L.M., Lev, D., Cunniff, C. and Plon, S.E. (2000) Evidence for genetic heterogeneity in Rothmund-Thomson syndrome. Am. J. Hum. Genet., 67 (suppl.), 376.
24. Lindor, N.M., Devries, E.M., Michels, V.V., Schad, C.R., Jalal, S.M., Donovan, K.M., Smithson, W.A., Kvols, L.K., Thibodeau, S.N. and Dewald, G.W. (1996) Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. Clin. Genet., 49, 124-129.
25. Miozzo, M., Castorina, P., Riva, P., Dalpra, L., Fuhrman Conti, A.M., Volpi, L., Hoe, T.S., Khoo, A., Wiegant, J., Rosenberg, C. et al. (1998) Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. Int. J. Cancer, 77, 504-510.
26. Syvänen, A.C., Aalto-Setälä, K., Harju, L., Kontula, K. and Söderlund. H. (1990) A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics, 8, 684-692.
27. Breitschopf, H., Suchanek, G., Gould R.M., Colman, D.R. and Lassmann, H. (1992) In situ hybridization with digoxigenin-labeled probes: sensitive and reliable detection method applied to myelinating rat brain. Acta Neuropathol. (Berl.), 84, 581-587.
28. Tong, M. (1995) Rothmund-Thomson syndrome in fraternal twins. Pediatr. Dermatol., 12, 134-137.