CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy

Muscle and Nerve

Volumn 23, Issue 5, 2000, Pages 804-806

  Osanai, Ryuichi ^a   Kinoshita, Masanobu ^b   Hirose, Kazuhiko ^c   Homma, Toshio ^a   Kawabata, Isuzu ^a  

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b Department of Gastroenterology   (Japan)

^c TOKYO METROPOLITAN TAMA MEDICAL CENTER   (Japan)

Author keywords

(CTG)n triplet repeats; Laryngeal cancer; Myotonic dystrophy; Somatic instability; Tumor suppression gene

Indexed keywords

DNA; PHOSPHOTRANSFERASE;

AGED; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROMYOGRAPHY; GENE; HUMAN; HUMAN TISSUE; LARYNGECTOMY; LARYNX CARCINOMA; MALE; MYOTONIC DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; SOUTHERN BLOTTING;

AGED; CELL DIVISION; HUMANS; LARYNGEAL NEOPLASMS; LEUKOCYTES; MALE; MYOTONIC DYSTROPHY; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0034061926     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(200005)23:5<804::AID-MUS19>3.0.CO;2-E     Document Type: Article

References (24)

1. Banna M, Bradley WG, Pearce GW. Massive pituitary adenoma in a patient with dystrophia myotonica. J Neurol Sci 1973; 20:1-6.
2. Barcelo JM, Mahadevan MS, Tsilfidis C, MacKenzie AE, Korneluk RG. Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Genet 1993;2:705-709.
3. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion J-P, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman E. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
4. Buxton J, Shelbourne P, Davies J, Jones C, Tongeren TV, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, Williamson R, Johnson K. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992; 355:547-548.
5. Fu Y-H, Pizzuti A, Fenwick RGJr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, Wieringa B, Korneluk R. Perryman MB, Epstein HF, Caskey CT. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258.
6. Harper PS. Myotonic dystrophy, the clinical picture. In: Harper PS, editor. Myotonic dystrophy. 2nd ed. London: Saunders; 1989. p.13-36.
7. Harris S, Moncrieff C, Johnson K. Myotonic dystrophy: will the real gene please step forward! Hum Mol Genet 1996;5: 1417-1423.
8. Ichikawa K, Crosley CJ, Culebras A, Weitkamp L. Coincidence of neurofibromatosis and myotonic dystrophy in a kindred. J Med Genet 1981;18:134-138.
9. Jinnai K, Sugio T, Mitani M, Hashimoto K, Takahashi K. Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients. Muscle Nerve 1999:22:1271-1274.
10. Johannesson G, Henriksson KG, Odkvist L. Coincidence of dystrophia myotonica and pleomorphic adenoma of the parotid gland. Acta Neurol Scand 1978;57:275-278.
11. Justice RW, Zilian O, Woods DF, Noll M, Bryant PJ. The drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation. Genes Dev 1995;9: 534-546.
12. Kinoshita M, Igarashi A, Komori T, Tamura H, Hayashi M, Kinoshita K, Deguchi T, Hirose K. Differences in CTG triplet repeat expansions in an ovarian cancer and cyst from a patient with myotonic dystrophy. Muscle Nerve 1997;20: 622-624.
13. Kinoshita M, Komori T, Ohtake T, Takahashi R, Nagasawa R, Hirose K . Abnormal calcium metabolism in mvotonic dystrophy as shown by the Ellsworth-Howard test and its relation to CTG triplet repeat length. J Neurol 1997;244:613-622.
14. Knudson AG. Anti-oncogenes and human cancer. Proc Natl Acad Sci USA 1993;90:10914-10921.
15. Kuroiwa Y, Yamada A, Ikebe K, Kosaka K, Sugita H, Murakami T. Myotonic dystrophy and thymoma: a necropsy case report. J Neurol Neurosurg Psychiatry 1981;44:173-175.
16. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K, Leblond S, Earle-Macdonald J, de Jong PJ, Wieringa B, Korneluk RG. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255: 1253-1255.
17. Mahadevan MS, Amemiya C, Jansen G, Sabourin L, Baird S, Neville CE, Wormskamp N, Segers B, Batzer M, Lamerdin J, de Jong P, Wieringa B, Korneluk RG. Structure and genomic sequence of the mvotonic dystrophy (DM kinase) gene. Hum Mol Genet 1993;2:299-304.
18. Osanai R, Kinoshita M, Hirose K. Saccadic slowing in myotonic dystrophy and CTG repeat expansion. J Neurol 1998; 245:674-680.
19. Rosenberg NL, Diliberti JH, Andrews AM, Buist NR. Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A. J Neurol Neurosurg Psychiatry 1988;51:1578-1580.
20. Watson KL. Drosophila WARTS - tumor suppressor and member of the myotonic dystrophy protein kinase family. BioEssays 1995;17:673-676.
21. Wong LJ, AshizawaT, Monckton DG, Caskey CT, Richards CS. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 1995;56: 114-122.
22. Wooster R, Cleton-Jansen A-M, Collins N, Mangion J, Cornelis RS, Cooper CS, Gusterson BA, Ponder BAJ, Deimling A von, Wiestler OD, Cornelisse CJ, Devilee P, Stratton MR. Instability of short tandem repeats (microsatellites) in human cancers. Nat Genet 1994;6:152-156.
23. Yarden O, Plamann M, Ebbole DJ, Yanofsky C. cot-1, a gene required for hyphal elongation in Neurospora crassa, encodes a protein kinase. EMBO J 1992;11:2159-2166.
24. Zatz M, Passos-Bueno MR, Cerqueira A, Marie SK. Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? Hum Mol Genet 1995;4:401-406.