Premutation in Achondroplasia
It is a common disorder ranging in prevalence from 2.5 to 5 per 100,000; in Italy, Camera and Mastroiacovo (7) documented a prevalence of 1/28,000 live- and stillborn children; the best estimate of prevalence after correcting for under-ascertainment was 1/22,500.
Most cases (80–90 percent) are sporadic; in the study of Camera and Mastroiacovo 24/25 cases were sporadic.
The fertility of all achondroplasia couples (including couples with one or two achondroplastic spouses and those who had no children and all of those who had at least one child) is low, namely 0.96 (21).
KeywordsSkeletal Dysplasia Familial Occurrence Unstable Gene Back Mutation Cold Spring Harbor Symposium
Unable to display preview. Download preview PDF.
- 1.C. Auerbach, The induction by mustard gas of chromosomal instabilities in Drosophila melanogaster, Proc. Roy. Soc. Edinb. B 62:307 (1947).Google Scholar
- 4.G. J. Bargman, L. O. Langer Jr., and J. M. Opitz, Achondroplasia and thanatophoric dwarfism: with a review of several forms of short-limb dwarfism, in: “Endocrine and Genetic Diseases of Childhood and Adolescence”, L. I. Gardner, ed., W. B. Saunders Co., Philadelphia (1975).Google Scholar
- P. Beighton, Personal communication, 2/23/1984.Google Scholar
- 6.P. Bowen, Achondroplasia in sisters with normal parents, in: “Skeletal Dysplasias”, D. Bergsma, V. A. McKusick, ed., BD:OAS, 10(12):31 (1974).Google Scholar
- 7.G. Camera and P. P. Mastroiacovo, Epidemiology of achondroplasia and other skeletal dysplasias in the Italian birth defects monitoring system, proceedings of this conference (1987).Google Scholar
- 9.S. Cohn and A. Weinberg, Identical hydrocephalic achondroplastictwins; subsequent delivery of single sibling with same abnormalities, Am. J. Obstet. Genecol. 72:1346 (1956).Google Scholar
- 14.J. G. Hall, Personal communication, (1987).Google Scholar
- 15.A. Heiberg, Personal communication, 9/10/84.Google Scholar
- 16.J. Herrmann, Clinical aspects of gene expression, BD:OAS, XIII/3D:25 (1977).Google Scholar
- 17.J. Herrmann and J. M. Opitz, Delayed mutation as a cause of genetic disease in man: achondroplasia and the Wiedemann-Beckwith syndrome, Regulation of Cell Proliferation and Differentiation, W. W. Nichols, D.G. Murphy, eds., Plenum Press, New York (1977).Google Scholar
- 18.J. G. Leroy, J. van Hauwaert, Achondroplasia: Unstable premutation. Am. J. Hum. Genet. 26:53A (only); and personal communication (1974).Google Scholar
- L. Lutter, Personal communication, 9/7/84.Google Scholar
- 22.F. Oberklaid, D. M. Danks, F. Jensen, L. Stace and S. Rooshandler, Achondroplasia and hypochondroplasia. Comments on frequency. Mutation rates and radiological features in skull and spine. Am. J. Med. Genet. 16:140 (1979).Google Scholar
- 23.J. M. Opitz, Delayed mutation in achondroplasia?, BD:OAS 5(4):20 (1969).Google Scholar
- 26.L. S. Penrose, Parental age in achondroplasia and mongolism. Am. J. Med. Genet. 9:167 (1957).Google Scholar
- 27.C. S. Reid, Personal communication (1987).Google Scholar
- 28.C. A. Reiser, Search for premutation in achondroplasia and hypochondroplasia: MS Thesis, University of Wisconsin, 1980, Major Professor: John M. Opitz (1980).Google Scholar
- 30.D. I. Rimoin and V. A. McKusick, Somatic mosaicism in an achondro plastic dwarf, BD:OAS, 5(4):17 (1969).Google Scholar
- 31.D. C. Siggers, Achondroplasia in two first cousins, BD:OAS, 10(12):358 (1974).Google Scholar
- 33.R. Wadia, Achondroplasia in two first cousins (mothers were sisters): all four parents normal and neither parental pair related, BD:OAS 5(4):227 (1969).Google Scholar
- 34.W. Weinberg, Zur Vererbung des Zwergwuchses, Arch. Rassen. Gesell-schftsbiol. 9:710 (1912).Google Scholar