Abstract
Genetic counselling in presymptomatic individuals with a family history of myotonic dystrophy (DM) is problematic. A genetic test to identify the presymptomatic carrier of the gene for DM would therefore be advantageous. We report studies comparing ophthalmic examination with a genetic test based on DNA linkage studies in nine DM families. The genetic test involved the use of five probes from four loci linked to the DM locus. Some discrepancies between ophthalmic and genetic tests were observed. Genetic counselling following prediction of genetic status was possible for 18 out of 20 patients from seven out of nine families.
Similar content being viewed by others
Article PDF
References
Burian HM and Burns CA : Ocular changes in Myotonic Dystrophy. Am J Ophthalmol 1967, 63: 22–34.
Raitta C and Karli P : Ocular findings in Myotonic Dystrophy. Ann Ophthalmol 1982, 14: 647–50.
Duke-Elder S : System of Ophthalmology. London. Kimpton. 1969, 11: 186–187.
Harper PS : Myotonic dystrophy. Philadelphia. WB Saunders. 1979.
Bundey S, Carter CO, Soothill JF : Early recognition of Heterozygotes for the Gene for Dystrophia Myotonica. J Nenrol Neurosurg Psychiat 1970, 33: 271–93.
Walton JN and Warwick CK : Osseous changes in Myopathy. Br J Radiol 1954, 27: 1–15.
Karpati G : Abnormal insulin homeostasis in Myotonic Dystrophy Trends. Neurosci 1985, 8: 141–3.
Wochner RD et al: Accelerated breakdown of Immunoglobulin G (IgC) in Myotonic Dystrophy: A Hereditary error of human catabolism. J Clin Invest 1966, 45: 321–29.
Renwick JH, Bundey SE, Ferguson-Smith MA, Izatt MM : Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet 1971, 8: 407–16.
Whitehead AS, Solomon E, Chambers S, Bodmer WF, Povey S, Fey G : Assignment of the structural gene for the third component of human complement to chromosome 19. Proc Natl Acad Sci USA 1982, 79: 5021–6.
Davies KE, Jackson J, Williamson R, Harper PS, Ball S, Sarfarazi M, Meredith L, Fey G : Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. J Med Genet 1983, 20: 259–63.
Shaw DJ, Meredith AL, Sarfarazi M, Huson SM, Brook JD, Myklebost O, Harper PS : The Apol-ipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus. Hum Genet 1985, 70: 271–3.
Meredith AL, Huson SM, Lunt PW, Sarfarazi H, Harley HG, Brook JD, Shaw DJ, Harper PS : Application of a closely limited polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. Br Med J 1986, 293: 1353–6.
Norman AM, Floyd JL, Meredith AL, Harper PS : Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers. J Med Gen 1989, 26: 750–4.
Humphries SE, Jowett NI, Williams LG, Rees A, Vella MA Kessling A, Mykelbost O, Seed M, Galton DJ, Williamson R : A DNA polymorphism adjacent to the human apolopoprotein CII gene. Mol Biol Med 1983, 1: 463–71.
Wallis SC, Donald AJ, Forrest LA, Williamson R, Humphries SE : The isolation of a genomic clone containing the apolipoprotein CII gene and the detection of linkage disequilibrium between 2 common DNA polymorphisms around the gene. Human Genet, 1984, 68: 286–9.
Schepens J, Smeets H, Hulsebos T, Brunner H, Wieringa B : Isolation of a polymorphic DNA sequence pJSBII (D19S16) from the human chromosome 19 cen -ql3.2 region linked to the myotonic dystrophy (DM) gene. Nucleic Acids Res 1987, 15: 3192.
Bartlett R, Pericak-Vance M, Yamaoka L, Gilbert J, Herbstreith M, Hung W-Y, Lee J, Mohandas T, Bruns G, Laberge C, Thibault M-C, Ross D, Roses A : A new probe for the diagnosis of myotonic muscular dystrophy. Science 1987, 235: 1648–50.
Perryman MB, Hejmancik JF, Ashizawa T, Armstrong R, Linn S-C, Roberts R, Epstein HF : Ncol and TaqI RFLPs for human M creatine kinase (CKM). Nucleic Acids Res 1988, 16: 8744.
Appleby VL, Coleman, RT, Frossand PM : Linkage disequilibrium at the human apolipoprotein CII gene locus. Am J Hum Genet 1986, 39: A145.
Hayasaka S, Kiyosawa M, Katsumata S, Handa M, Takase S, Mizano K : Ciliary and Retinal Changes in Myotonic Dystrophy. Arch Ophthalmol 1984, 102: 88–93.
Harper PS : Pre-symptomatic Detection and Genetic Counselling in Myotonic Dystrophy. Clin Gen 1973, 4: 134–40.
Bundey S : Detection of Heterozygotes for Myotonic Dystrophy. Clin Gen 1974, 5: 107–9.
Penrose LS : The problem of anticipation in pedigrees of dystrophia myotonica. Ann Eugenics 1948, 14: 125–32.
Howeler CJ, Busch HFM, Geraedts JPM, Niermeijer MF, Staal A : Anticipation in myotonic dystrophy: fact or fiction? Brain 1989, 112: 779–97.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Longstaff, S., Curtis, D., Quick, J. et al. Genetic counselling for myotonic dystrophy: A comparison of lens examination and DNA linkage studies. Eye 5, 93–98 (1991). https://doi.org/10.1038/eye.1991.18
Issue Date:
DOI: https://doi.org/10.1038/eye.1991.18