An (X;11) translocation in a girl with Duchenne muscular dystrophy

Greenstein, Robert M.; Reardon, Madeleine; Chan, Teh Sheng; Middleton, A. B.; Mulivor, R.A.; Greene, A.E.; Coriell, Lewis L.

doi:10.1159/000131496

Cited by 62 publications

(16 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…CF60-24 is derived from normal human fibroblasts (5). The other CF hybrid clones are derived from human fibroblasts containing X/autosome translocations: CF25-8 contains an X/13 translocation, retained der(X), Xqter-*Xp22.1 (6); CF37-6 contains an X/11 translocation (GM1695, from the Human Mutant Genetic Cell Repository, Camden, NJ) and was from a patient with Duchenne muscular dystrophy, retained der(X), Xqter -*Xp2l.2 (7); CF31-24 and CF31-4 both contain an X/20 translocation with der(X), Xqter-+Xcen (6); and CF32-23 contains an X/12 translocation with der(X), Xqter-oXq22 (8). Clone 37-26R-D-le, isolated from the CF37-6 experiment, contains a structurally normal inactive human X chromosome as the only human X-derived material (9); clone 2bR-2, isolated from the CF25-8 experiment (X/13 translocation) (6), contains der(X), Xqter-*Xp22.…”

Section: Methodsmentioning

confidence: 99%

Assignment of the gene for human DNA polymerase alpha to the X chromosome.

Wang

Pearson

Suomalainen

et al. 1985

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

We have applied an assay based on a monoclonal antibody that discriminates the activity of human DNA polymerase a in rodent-human somatic cell hybrid clones to identify a single genetic locus that is both necessary and sufficient for the expression of DNA polymerase a. We have mapped this locus to the short arm of the human X chromosome, near the junction of bands Xp21.3 and Xp22.1, and demonstrated that it is not expressed from an inactive X chromosome.We have described (1) a panel of monoclonal antibodies specific for DNA polymerase a and have used them for immunoaffinity purification of a complex, presumptively native, form of the enzyme from KB cells that expresses both DNA polymerase a and a tightly coupled DNA primase activity (2, 3) and contains a number of polypeptide components. In the present studies, these antibodies form the basis ofa discriminating immunoassay with which we have mapped to the short arm of the human X chromosome a single genetic locus that is necessary and sufficient for DNA polymerase a expression.

show abstract

Section: Methodsmentioning

confidence: 99%

Assignment of the gene for human DNA polymerase alpha to the X chromosome.

Wang

Pearson

Suomalainen

et al. 1985

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

show abstract

“…15) Some reports described cases of X-autosomal translocations with breakpoints at Xp21 resulting in preferential inactivation of the normal chromosome. 8,11) If the X chromosome of turner syndrome patient (karyotype XO) carries a mutated dystrophin gene, her daughter can be symptomatic.…”

Section: Dystrophinopathies In Female Patientsmentioning

confidence: 99%

“…7) Depending on the advancement of molecular genetics, mapping of the gene responsible for DMD was available to band p21 of the short arm of the X chromosome (Xp21). [8][9][10][11] Subsequently, Kunkel's group identified the muscle protein dystrophin which is encoded by the DMD gene. 12) The full-size dystrophin is 427 kDa in molecular mass 12) and its distribution is almost the same in both slow and fast fiber types.…”

Section: Introductionmentioning

confidence: 99%

Female Carriers of Duchenne Muscular Dystrophy

Cho

Choi

2013

J Genet Med

View full text Add to dashboard Cite

males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers.1, 2, 4) Therefore, here we reviewed recent studies to meet the need for a better understanding about the characterization of female carriers of DMD. What is dystrophinopathies?Duchenne's description of DMD was published in 1861. He referred to the disease as "hypertrophic paraplegia of infancy due to a cerebral cause". IntroductionDuchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy. The milder form of this disease is called Becker muscular dystrophy(BMD).1) The disorder is also called dystrophinopathy because it caused by mutations in the DMD gene, which encodes dystrophin, on Xp21.2) Most heterozygous female carriers of DMD are subclinical. Therefore, identification of dystrophinopathy carriers may be only con sidered on clinical grounds such as clear X-linked family history of muscular dystrophy. However, myopathic muscle biopsy and advanced molecular diagnostic analysis can be used to identify the carrier state of DMD without a positive family history of dystrophinopathy , which is present in 10% of women with hyperCKemia.3) In addition, two-thirds of mothers of affected www.e-kjgm.org Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

show abstract

“…Several females afflicted with DMD have been described who all had a balanced X-autosome translocation. The fusion between the autosome and the X chromosome was in all cases at the same position: Xp21 (Canki et al 1979, Greenstein et al 1980, Lindenbaum 1979, Verellen et al 1978. Since the X chromosome with the autosome translocation remains active during interphase, it has been assumed that a mutation may have taken place at the Xp21 locus, which led then to the manifest DMD of the girls, the normal allele on the other X chromosome being metabolically inactive.…”

mentioning

confidence: 95%

Twenty years-iowa muscle clinic: Reminiscences and prospects

Zellweger

Ionâşescu

1982

Eur J Pediatr

View full text Add to dashboard Cite

The activities of the last twenty years of the Iowa clinic for neuromuscular diseases are briefly reviewed. Main emphasis in this paper is on management and guidance of the patient with Duchenne muscular dystrophy (DMD) by the families, the school and the public at large. Guidance and treatment given to our patients is briefly described. It is well known that chronic debilitating disease affects not only the patient but the whole family; management of DMD should therefore include the parents and siblings of the patient. Preventability of DMD is illustrated by the experiences in our clinic. The importance of early carrier detection and genetic counseling is stressed. Possible future developments in DMD research are briefly mentioned.

show abstract

An (X;11) translocation in a girl with Duchenne muscular dystrophy

Cited by 62 publications

References 0 publications

Assignment of the gene for human DNA polymerase alpha to the X chromosome.

Assignment of the gene for human DNA polymerase alpha to the X chromosome.

Female Carriers of Duchenne Muscular Dystrophy

Twenty years-iowa muscle clinic: Reminiscences and prospects

Contact Info

Product

Resources

About