Genetic counseling of isolated carriers of Duchenne muscular dystrophy

American Journal of Medical Genetics

Volumn 63, Issue 4, 1996, Pages 573-580

  Hoffman, Eric P ^a   Pegoraro, Elena ^a   Scacheri, Peter ^a   Burns, Ronald G ^b   Taber, Joseph W ^b   Weiss, Lester ^c   Spiro, Alfred ^d   Blattner, Peggy ^e  

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

^b Rlchland Memorial Hospital   (United States)

^c HENRY FORD HOSPITAL   (United States)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^e NONE

Author keywords

CPK; dystrophin; isolated X linked DMD carriers

Indexed keywords

ANDROGEN RECEPTOR; DYSTROPHIN;

ADULT; ARTICLE; CASE REPORT; CHILD; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; MOLECULAR GENETICS; MUSCLE BIOPSY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ADULT; CHILD; DOSAGE COMPENSATION, GENETIC; DYSTROPHIN; FEMALE; FLUORESCENCE; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MUSCULAR DYSTROPHIES; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE DELETION;

EID: 0029900140     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<573::AID-AJMG11>3.0.CO;2-F     Document Type: Article

References (22)

1. Allen CR, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992): 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 51:1229-1239.
2. Arikawa E, Hoffman EP, Kaido M, Nonaka I, Sugita H, Arahata K (1991): The frequency of patients having dystrophin abnormalities in a limb-girdle patient population. Neurology 41:1491-1496.
3. Bakker E, Veenema H, Den Dunnen JT, Van Broeckhoven C, Grootscholten PM, Bonten EJ, Van Ommen GJB, et al. (1989): Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations. J Med Genet 26:553-559.
4. Beggs AH, Kunkel LM (1990): A polymorphic CACA repeat in the 3′ untranslated region of dystrophin. Nucleic Acids Res 18:1931.
5. Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT (1991): Linkage analysis for Duchenne and Becker muscular dystrophies using dinucleotide repeat polymorphisms. Am J Hum Genet 49:951-960.
6. Cooper BJ, Gallagher EA, Smith CA, Valentine BA, Winand NJ (1990): Mosaic expression of dystrophin in carriers of canine X-linked muscular dystrophy. Lab Invest 62:171-178.
7. Evans MI, Greb A, Kazazian H, Sacks AJ, Johnson MP, Boehm C, Kunkel LM, Hoffman EP (1991): In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. Am J OBGYN 165:728-732.
8. Evans MI, Hoffman EP, Cadrin C, Johnson MP, Quintero RA, Golbus MS (1994): Fetal muscle biopsy: collaborative experience with varied indications. Obstet Gynecol 84:913-917.
9. Feener CA, Boyce FM, Kunkel LM (1991): Rapid detection of CA polymorphism in cloned DNA: Application to the 5′ region of the dystrophin gene. Am J Hum Genet 48:621-627.
10. Hoffman EP, Brown RH, Kunkel LM (1987): Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 51:919-928.
11. Hoffman EP, Gorospe JR (1991): The animal models of Duchenne dystrophy: Windows on the pathophysiological consequences of dystrophin deficiency. In Mooseker MS, Morrow JS (eds): "Ordering the Membrane-Cytoskeleton Trilayer, Topics in Membranes," Vol. 38. New York: Academic Press, pp 113-154.
12. Hoffman EP, Arahata K, Minetti C, Bonilla E, Rowland LP, Angelini C, Arikawa E, et al. (1992): Dystrophinopathy in isolated cases of myopathy in females. Neurology 42:967-975.
13. Hoffman EP (1993): Genotype/phenotype correlations in Duchenne/ Becker muscular dystrophy. In Partridge TA (ed): "Molecular and Cell Biology of Muscular Dystrophy." London: Chapman and Hall, pp 12-36.
14. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987): Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517.
15. Koenig M, Kunkel LM (1990): Detailed analysis of the repeat domain of dystrophin reveals 4 potential hinge regions that may confer flexibility. J Biol Chem 265:4560-4566.
16. Kuller JA, Hoffman EP, Fries MH, Golbus MS (1992): Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy. Hum Genet 90:34-40.
17. Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM (1986): Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323:646-650.
18. Pegoraro E, Schimke RN, Arahata K, Hayashi Y, Stern H, Marks H, Glasberg MR, Carroll JE, Taber JW, Wessel HB, Bauserman SC, Toriello HV, Appleton S, Schwartz LS, Garcia CA, Hoffman EP (1994): Dystrophinopathy in females: Paternal inheritance and genetic counseling. Am J Hum Genet 54:989-1003.
19. Pegoraro E, Schimke RN, Garcia C, Stern H, Cadaldini M, Angelini C, Barbosa E, Carroll JC, Marks WA, Neville HE, Marks H, Appleton S, Toriello H, Wessel HB, Donnelly J, Johnson PC, Taber JW, Weiss L, Hoffman EP (1995): Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin competent myonuclei. Neurology 45:677-690.
20. Schwartz LS, Tarleton J, Popovich B, Seltzer W, Hoffman EP (1992): Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy. Am J Hum Genet 51:721-729.
21. van Essen AJ, Abbs S, Baiget M, Bakker E, Boileau C, van Broeckhoven C, Bushby K, et al. (1992): Parental origin and germline mosaicism of deletion and duplication of the dystrophin gene: A European study. Hum Genet 88:249-257.
22. Watkins SC, Hoffman EP, Slayter HS, Kunkel LM (1989): Dystrophin distribution in heterozygote MDX mice. Muscle Nerve 12:861-568.