Clinical and genetic characterization of manifesting carriers of DMD mutations

Neuromuscular Disorders

Volumn 20, Issue 8, 2010, Pages 499-504

  Soltanzadeh, Payam ^a   Friez, Michael J ^c   Dunn, Diane ^a   von Niederhausern, Andrew ^a   Gurvich, Olga L ^a   Swoboda, Kathryn J ^a   Sampson, Jacinda B ^a   Pestronk, Alan ^d   Connolly, Anne M ^d   Florence, Julaine M ^d   Finkel, Richard S ^e   Bönnemann, Carsten G ^e   Medne, Livija ^e   Mendell, Jerry R ^f   Mathews, Katherine D ^g   Wong, Brenda L ^h   Sussman, Michael D ⁱ   Zonana, Jonathan ^j   Kovak, Karen ^j   Gospe, Sidney M ^k   Gappmaier, Eduard ^b   Taylor, Laura E ^f   Howard, Michael T ^a   Weiss, Robert B ^a   Flanigan, Kevin M ^f   more..

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f OHIO STATE UNIVERSITY   (United States)

^g UNIVERSITY OF IOWA   (United States)

^h CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

ⁱ SHRINERS HOSPITAL FOR CHILDREN   (United States)

^j OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^k UNIVERSITY OF WASHINGTON   (United States)

more..

Author keywords

Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; Dystrophin; Dystrophinopathy; Manifesting carriers; X chromosome inactivation

Indexed keywords

DYSTROPHIN;

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; DISEASE SEVERITY; DNA EXTRACTION; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HISTORY; FEMALE; GENE DELETION; GENE DUPLICATION; HETEROZYGOTE; HUMAN; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYALGIA; NONSENSE MUTATION; ONSET AGE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FEMALE; HEART FUNCTION TESTS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 77955268106     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.05.010     Document Type: Article

References (28)

1. Moser H., Emery A.E. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet 1974, 5:271-284.
2. Norman A., Harper P. A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. Clin Genet 1989, 36:31-37.
3. Taylor P.J., Maroulis S., Mullan G.L., et al. Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. J Med Genet 2007, 44:368-372.
4. Arahata K., Ishihara T., Kamakura K., et al. Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl J Med 1989, 320:138-142.
5. Hoffman E.P., Arahata K., Minetti C., et al. Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992, 42:967-975.
6. Arikawa E., Hoffman E.P., Kaido M., et al. The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991, 41:1491-1496.
7. Hoogerwaard E.M., Ginjaar I.B., Bakker E., de Visser M. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology 2005, 65:1984-1986.
8. Hoogerwaard E.M., Bakker E., Ippel P.F., et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999, 353:2116-2119.
9. Flanigan K.M., von Niederhausern A., Dunn D.M., et al. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 2003, 72:931-939.
10. Roberts R.G., Barby T.F., Manners E., et al. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet 1991, 49:298-310.
11. Allen R.C., Zoghbi H.Y., Moseley A.B., et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992, 51:1229-1239.
12. Plenge R.M., Hendrich B.D., Schwartz C., et al. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet 1997, 17:353-356.
13. Amos-Landgraf J.M., Cottle A., Plenge R.M., et al. X chromosome-inactivation patterns of 1005 phenotypically unaffected females. Am J Hum Genet 2006, 79:493-499.
14. Bushby K.M., Goodship J.A., Nicholson L.V., et al. Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1993, 3:57-64.
15. Center WUND. Dystrophinopathies: female carriers. Neuromuscular syndromes.
16. van Essen A.J., Mulder I.M., van der Vlies P., et al. Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet A 2003, 118A:296-298.
17. Hoogerwaard E.M., van der Wouw P.A., Wilde A.A., et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999, 9:347-351.
18. Mirabella M., Servidei S., Manfredi G., et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993, 43:2342-2345.
19. Kinoshita H., Goto Y., Ishikawa M., et al. A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom. Brain Dev 1995, 17:202-205.
20. Azofeifa J., Voit T., Hubner C., Cremer M. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995, 96:167-176.
21. Muntoni F., Mateddu A., Marrosu M.G., et al. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier. Clin Genet 1992, 42:35-38.
22. Dent K.M., Dunn D.M., von Niederhausern A.C., et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A 2005, 134:295-298.
23. Matthews P.M., Benjamin D., Van Bakel I., et al. Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995, 5:209-220.
24. Bittel D.C., Theodoro M.F., Kibiryeva N., et al. Comparison of X-chromosome inactivation patterns in multiple tissues from human females. J Med Genet 2008, 45:309-313.
25. Bolduc V., Chagnon P., Provost S., et al. No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans. J Clin Invest 2008, 118:333-341.
26. Pegoraro E., Schimke R.N., Arahata K., et al. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 1994, 54:989-1003.
27. Knudsen G.P., Neilson T.C., Pedersen J., et al. Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. Eur J Hum Genet 2006, 14:1189-1194.
28. Plenge R.M., Stevenson R.A., Lubs H.A., et al. Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 2002, 71:168-173.