An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 508, Issue 1-2, 2002, Pages 99-105

  Balraj, Pauline ^a   Concannon, Pat ^b   Jamal, Rahman ^c   Beghini, Alessandro ^d   Hoe, T S ^e   Khoo, Alan Soobeng ^a   Volpi, Ludovica ^a,d  

^a INSTITUTE FOR MEDICAL RESEARCH   (Malaysia)

^b BENAROYA RESEARCH INSTITUTE   (United States)

^c DEPARTMENT OF PHARMACOLOGY   (Malaysia)

^d UNIVERSITY OF MILAN   (Italy)

^e Selangor Medical Centre   (Malaysia)

Author keywords

Intronic mutation; RECQ4; Rothmund Thomson syndrome; Splicing

Indexed keywords

HELICASE;

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; EXON; FEMALE; GENE MUTATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME;

ADOLESCENT; ALTERNATIVE SPLICING; AMPUTATION; BONE NEOPLASMS; DISEASES IN TWINS; DNA HELICASES; EXONS; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION; OSTEOSARCOMA; PEDIGREE; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME; TWINS, DIZYGOTIC;

EID: 0037206591     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(02)00189-6     Document Type: Article

References (10)

1. Kitao S., Shimamoto A., Goto M., Miller R.W., Smithson W.A., Lindor N.M., Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat. Genet. 22:1999;82-84.
2. Lindor N.M., Furuichi Y., Kitao S., Shimamoto A., Arndt C., Jalal S. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am. J. Med. Genet. 90:2000;223-228.
3. Wang M.L., Levy R.A., Gannavarapu A., Stockton D.W., Burks L.M., Lev D., Cunniff C.M., Plon S.E. Evidence for genetic heterogeneity in Rothmund-Thomson syndrome. Am. J. Med. Genet. 67 Suppl. 2000;A2107 376.
4. Miozzo M., Castorina P., Riva P., Dalpra L., Fuhrman Conti A.M., Volpi L., Khoo A., Wiegant J., Rosenberg C., Larizza L. Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. Int. J. Cancer. 77:1998;504-510.
5. Kitao S., Lindor N.M., Shiratori M., Furuichi Y., Shimamoto A. Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics. 61:1999;268-276.
6. Ohhata T., Araki R., Fukumura R., Kuroiwa A., Matsuda Y., Abe M. Cloning genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RECQL5beta. Gene. 280:2001;59-66.
7. Liu H.X., Cartegni L., Zhang M.Q., Krainer A.R. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat. Genet. 27:2001;55-58.
8. Deutsch M., Long M. Intron-exon structures of eukaryotic model organisms. Nucl. Acids Res. 27:1999;3219-3228.
9. Rungroj N., Thongnoppakhun W., Vareesangthip K., Sirinavin C., Wilairat P., Yenchitsomanus P.T. Molecular defect of PKD1 gene resulting in abnormal RNA processing in a Thai family. J. Med. Assoc. Thai. 84:2001;1308-1316.
10. Pagani F., Buratti E., Stuani C., Bendix R., Dörk T., Baralle F.E. A new type of mutation causes a splicing defect in ATM. Nat. Genet. 30:2002;426-429.