Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity

Journal of Medical Genetics

Volumn 35, Issue 3, 1998, Pages 241-243

  Vincent, M C ^a   Guiraud Chaumeil, C ^a   Laporte, J ^a   Manouvrier Hanu, S ^b   Mandel, J L ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Germinal mosaicism; Myotubular myopathy; Myotubularin

Indexed keywords

ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CONTROLLED STUDY; FEMALE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC LINKAGE; GERM CELL; HETEROZYGOTE; HUMAN; INHERITANCE; MALE; MOSAICISM; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0031899454     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.3.241     Document Type: Article

References (17)

1. Wallgren-Pettersson C, Clarke A, Samson F, et al. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet 1995;32:673-9.
2. Thomas N, Williams H, Cole G, et al. X-linked centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J Med Genet 1990;27:284-7.
3. Lehesjoki AE, Sankila E, Miao J, et al. X-linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. J Med Genet 1990;27:288-91.
4. Laporte J, Hu LJ, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996;13:175-82.
5. Hu LJ , Laporte J, Kress W, Dahl N. Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers. Prenat Diagn 1996;16:231-7.
6. Samson F, Mesnard L, Heimburger M, et al. Genetic linkage heterogeneity in myotubular myopathy. Am J Hum Genet 1995;57:120-6.
7. Bakker E, Van Broeckhoven C, Bonten EJ, et al. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 1987;329:554-6.
8. Bakker E, Veenema H, Den Dunnen JT, et al. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet 1989;26:553-9.
9. Passos-Bueno MR, Bakker E, Kneppers AL, et al. Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet 1992;51:1150-5.
10. Melis MA, Cau M, Congiu R, Puddu R, Muntoni F, Cao A. Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling. Clin Genet 1993;43:247-9.
11. Maddalana A, Sosnoski M, Berry GT, Nussbaum RL. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med 1988; 319:999-1003.
12. Arveiler B, de Saint-Basile G, Fischer A, Griscelli C, Mandel JL. Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. Am J Hum Genet 1990;46:906-11.
13. Puck JM, Pepper AE, Bedard PM, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest 1995;95:443-4.
14. Jouet M, Strain L, Bonthron D, Kenwrick S. Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus. J Med Genet 1996;33:248-50.
15. Guiraud-Chaumeil C, Vincent MC, Lapone J, Fardeau M, Samson F, Mandel JL. A mutation in the MTM1 gene invalidates a previous suggestion of non allelic heterogeneity in X-linked myotubular myopathy. Am J Hum Genet 1997;60:1542-6.
16. Laporte J, Guiraud-Chaumeil C, Vincent MC, et al. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. Hum Mol Genet 1997;6:1505-11.
17. de Gouyon M, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet 1997;6:1499-504.