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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1990 Nov;27(11):683–687. doi: 10.1136/jmg.27.11.683

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

T Grimm 1, B Müller 1, C R Müller 1, M Janka 1
PMCID: PMC1017258  PMID: 2277383

Abstract

A newly formulated mutation selection equilibrium for lethal X linked recessive traits such as Duchenne muscular dystrophy is presented, which allows for both male and female germline mosaicism. Estimates of the additional parameters used are given, thus allowing the incorporation of germline mosaicism into the calculation of genetic risks.

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Selected References

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  1. Allanson J. E. Germinal mosaicism in Apert syndrome. Clin Genet. 1986 May;29(5):429–433. doi: 10.1111/j.1399-0004.1986.tb00516.x. [DOI] [PubMed] [Google Scholar]
  2. Bakker E., Van Broeckhoven C., Bonten E. J., van de Vooren M. J., Veenema H., Van Hul W., Van Ommen G. J., Vandenberghe A., Pearson P. L. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature. 1987 Oct 8;329(6139):554–556. doi: 10.1038/329554a0. [DOI] [PubMed] [Google Scholar]
  3. Bakker E., Veenema H., Den Dunnen J. T., van Broeckhoven C., Grootscholten P. M., Bonten E. J., van Ommen G. J., Pearson P. L. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet. 1989 Sep;26(9):553–559. doi: 10.1136/jmg.26.9.553. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Barbujani G., Russo A., Danieli G. A., Spiegler A. W., Borkowska J., Petrusewicz I. H. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet. 1990 May;84(6):522–526. doi: 10.1007/BF00210802. [DOI] [PubMed] [Google Scholar]
  5. Bowen P. Achondroplasia in two sisters with normal parents. Birth Defects Orig Artic Ser. 1974;10(12):31–36. [PubMed] [Google Scholar]
  6. Bradley T. B., Wohl R. C., Petz L. D., Perkins H. A., Reynolds R. D. Possible gonadal mosaicism in a family with hemoglobin Köln. Johns Hopkins Med J. 1980 Jun;146(6):236–240. [PubMed] [Google Scholar]
  7. Byers P. H., Tsipouras P., Bonadio J. F., Starman B. J., Schwartz R. C. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet. 1988 Feb;42(2):237–248. [PMC free article] [PubMed] [Google Scholar]
  8. Comings D. E. The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation. Am J Med Genet Suppl. 1986;1:383–388. doi: 10.1002/ajmg.1320250540. [DOI] [PubMed] [Google Scholar]
  9. Connor J. M., Stephenson J. B., Hadley M. D. Non-penetrance in tuberous sclerosis. Lancet. 1986 Nov 29;2(8518):1275–1275. doi: 10.1016/s0140-6736(86)92697-8. [DOI] [PubMed] [Google Scholar]
  10. Darras B. T., Blattner P., Harper J. F., Spiro A. J., Alter S., Francke U. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet. 1988 Nov;43(5):620–629. [PMC free article] [PubMed] [Google Scholar]
  11. David T. J. Dominant ectrodactyly and possible germinal mosaicism. J Med Genet. 1972 Sep;9(3):316–320. doi: 10.1136/jmg.9.3.316. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Edwards J. H. Familiarity, recessivity and germline mosaicism. Ann Hum Genet. 1989 Jan;53(Pt 1):33–47. doi: 10.1111/j.1469-1809.1989.tb01120.x. [DOI] [PubMed] [Google Scholar]
  13. Francke U., Darras B. T., Hersh J. H., Berg B. O., Miller R. G. Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Am J Hum Genet. 1989 Jul;45(1):63–72. [PMC free article] [PubMed] [Google Scholar]
  14. Fryns J. P., Kleczkowska A., Verresen H., van den Berghe H. Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. Clin Genet. 1983 Sep;24(3):156–158. doi: 10.1111/j.1399-0004.1983.tb02232.x. [DOI] [PubMed] [Google Scholar]
  15. Gartler S. M., Francke U. Half chromatid mutations: transmission in humans? Am J Hum Genet. 1975 Mar;27(2):218–223. [PMC free article] [PubMed] [Google Scholar]
  16. Grimm T. The influence of half-chromatid mutations on the ratio of new mutations in lethal X-linked recessive disorders. Am J Hum Genet. 1982 Jan;34(1):142–145. [PMC free article] [PubMed] [Google Scholar]
  17. Hall J. G., Dorst J. P., Rotta J., McKusick V. A. Gonadal mosaicism in pseudoachondroplasia. Am J Med Genet. 1987 Sep;28(1):143–151. doi: 10.1002/ajmg.1320280121. [DOI] [PubMed] [Google Scholar]
  18. Hartl D. L. Recurrence risks for germinal mosaics. Am J Hum Genet. 1971 Mar;23(2):124–134. [PMC free article] [PubMed] [Google Scholar]
  19. Kim K. S. Efficacy of human immunoglobulin and penicillin G in treatment of experimental group B streptococcal infection. Pediatr Res. 1987 Mar;21(3):289–292. doi: 10.1203/00006450-198703000-00018. [DOI] [PubMed] [Google Scholar]
  20. Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
  21. Masada C. T., Olney A. H., Fordyce R., Sanger W. G. Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism. Am J Med Genet. 1989 Dec;34(4):528–534. doi: 10.1002/ajmg.1320340415. [DOI] [PubMed] [Google Scholar]
  22. Murphy E. A., Cramer D. W., Kryscio R. J., Brown C. C., Pierce E. R. Gonadal mosaicism and genetic counseling for X-linked recessive lethals. Am J Hum Genet. 1974 Mar;26(2):207–222. [PMC free article] [PubMed] [Google Scholar]
  23. Opitz J. M. "Unstable premutation" in achondroplasia: penetrance vs phenotrance. Am J Med Genet. 1984 Oct;19(2):251–254. doi: 10.1002/ajmg.1320190207. [DOI] [PubMed] [Google Scholar]
  24. Philip N., Auger M., Mattei J. F., Giraud F. Achondroplasia in sibs of normal parents. J Med Genet. 1988 Dec;25(12):857–859. doi: 10.1136/jmg.25.12.857. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. REED T. E., FALLS H. F. A pedigree of aniridia with a discussion of germinal mosaicism in man. Am J Hum Genet. 1955 Mar;7(1):28–38. [PMC free article] [PubMed] [Google Scholar]
  26. Reiser C. A., Pauli R. M., Hall J. G. Achondroplasia: unexpected familial recurrence. Am J Med Genet. 1984 Oct;19(2):245–250. doi: 10.1002/ajmg.1320190206. [DOI] [PubMed] [Google Scholar]
  27. Rollnick B. R. Germinal mosaicism in Crouzon syndrome. Clin Genet. 1988 Mar;33(3):145–150. doi: 10.1111/j.1399-0004.1988.tb03429.x. [DOI] [PubMed] [Google Scholar]
  28. Romeo G., Archidiacono N., Ferlini A., Rocchi M. Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations. Am J Med Genet Suppl. 1986;1:355–359. doi: 10.1002/ajmg.1320250536. [DOI] [PubMed] [Google Scholar]
  29. Speer A., Spiegler A. W., Hanke R., Grade K., Giertler U., Schieck J., Forrest S., Davies K. E., Neumann R., Bollmann R. Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes. J Med Genet. 1989 Jan;26(1):1–5. doi: 10.1136/jmg.26.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Wood S., McGillivray B. C. Germinal mosaicism in Duchenne muscular dystrophy. Hum Genet. 1988 Mar;78(3):282–284. doi: 10.1007/BF00291677. [DOI] [PubMed] [Google Scholar]

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