CTG trinucleotide repeat length and clinical expression in a family with myotonic dystrophy

Brain and Development

Volumn 18, Issue 2, 1996, Pages 127-130

  Takahashi, Satoru ^a   Miyamoto, Akie ^a   Oki, Junichi ^a   Okuno, Akimasa ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

Clinical expression; Hypogonadism; Myotonic dystrophy; Southern blot analysis; Trinucleotide repeat

Indexed keywords

ESTRADIOL; GONADORELIN; GONADOTROPIN; PROLACTIN; PROTEIN KINASE; TRINUCLEOTIDE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 19Q; DISEASE SEVERITY; ESTRADIOL BLOOD LEVEL; FEMALE; GENE EXPRESSION; GONADOTROPIN BLOOD LEVEL; HORMONE RESPONSE; HUMAN; MENSTRUAL IRREGULARITY; MYOTONIC DYSTROPHY; NUCLEOTIDE REPEAT; ONSET AGE; PROLACTIN BLOOD LEVEL; SOUTHERN BLOTTING; SYMPTOM;

EID: 0029931968     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/0387-7604(95)00119-0     Document Type: Article

References (27)

1. Harper PS. Myotonic dystrophy. 2nd edn. London: WB Saunders, 1989.
2. Brook JD, McCurrach ME, Harley HG, et al. 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.
3. Buxton JD, Shelboume P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992; 355: 547-8.
4. Fu YH, Pizzuti R, Fenwick G, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 255: 1256-8.
5. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992; 255: 1253-5.
6. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning - a laboratory manual. 2nd edn. New York: Cold Spring Harbor Laboratory Press, 1989.
7. Yoshizawa A, Tanaka T, Horikawa R, et al. Clinical study on the immunoradiometric assay of luteinizing hormone and follicle stimulating hormone in children (in Japanese). Horumon To Rinsho (Tokyo) 1990; 38: 107-11.
8. Ducharme JR, Forest MG, Peretti ED, Sempe' M, Collu R, Bertrand J. Plasma adrenal and gonadal sex steroids in human pubertal development. J Clin Endocrinol Metab 1976; 42: 468-76.
9. Aono T, Kumamoto E, Sasaki Y, et al. Multicentric basic and clinical studies on immunoradiometric assay (SPAC-S Prolactin Kit) for measurement of serum prolactin using WHO standard sample (in Japanese). Horumon To Rinsho (Tokyo) 1989; 37: 441-55.
10. Davies J, Yamagata H, Shelbourne P, et al. Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. J Med Genet 1992; 29: 766-9.
11. Yamagata H, Miki T, Ogihara T, et al. Expansion of unstable DNA region in Japanese myotonic dystrophy patients. Lancet 1992; 339: 692.
12. Drucker WD, Blanc WA, Rowland LP, Grumbach MM, Christy NP. The testis in myotonic muscular dystrophy: A clinical and pathologic study with a comparison with the Klinefelter syndrome. J Clin Endocrinol Metab 1963; 23: 59-75.
13. Goldstein JL, Motulsky AG. Genetics and endocrinology. In: Williams RH, ed. Textbook of endocrinology. 6th edn. Philadelphia: Saunders, 1981: 1125-48.
14. Harper P, Penny R, Foley TPJ, Migeon CJ, Blizzard RM. Gonadal function in males with myotonic dystrophy. J Clin Endocrinol Metab 1972; 35: 852-6.
15. Febres F, Scaglia H, Lisker R, et al. Hypothalamic-pituitary-gonadal function in patients with myotonic dystrophy. J Clin Endocrinol Metab 1975; 41: 833-40.
16. Ashizawa T, Dubel JR, Dunne PW, et al. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology 1992; 42: 1877-83.
17. Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992; 355: 545-6.
18. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992; 355: 548-51.
19. Oberle I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252: 1097-102.
20. Yu S, Prichard M, Kremer E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991; 252: 1179-81.
21. Spada ARL, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352: 77-9.
22. Ashizawa T, Dubel JR, Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993; 43: 2674-8.
23. Wieringa B, Jansen G, Wormskamp N, et al. The unstable [CTG]n motif and myotonic dystrophy (DM): Are polygenic and nonmendelian aspects involved in disease manifestation? Am J Hum Genet 1992; 51S: A109.
24. Ohya K, Tachi N, Chiba S, et al. Congenital myotonic dystrophy transmitted from an asymptomatic father with a DM-specific gene. Neurology 1994; 44: 1958-60.
25. Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG. Correlation between CTG repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet 1992; 1: 192-5.
26. Harley HG, Rundle SA, MacMillan JC, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993; 52: 1164-74.
27. Koch MC, Grimm T, Harley HG, Harper PS. Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 1991; 48: 1084-91.