Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients

Singh, Vinita; Sinha, Sushmita; Mishra, Sudhish; Chaturvedi, Lakshmi S.; Pradhan, Sunil; Mittal, Rama Devi; Mittal, Balraj

doi:10.1007/s004390050340

Cited by 35 publications

(37 citation statements)

References 19 publications

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“…Twenty nine sporadic deletional DMD families were selected for our present study. The probands in all these families had intragenic deletion(s) in the central region (exons 43-52) which were detected by multiplex PCR (m-PCR) (Chamberlain et al, 1988;Beggs et al, 1990;Singh et al, 1997). There was no family history of the disease.…”

Section: De Novo M Utations In Sporadic Deletional Duchenne M Uscularmentioning

confidence: 99%

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

Mukherjee

Chaturvedi²,

Srivastava³

et al. 2003

Exp Mol Med

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Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polym orphic dinucleotide loci at "deletional hotspot" of dystrophin gene can provide direct evidence of carrier status in female relatives of affected DMD patients with overlapped exonic deletions. We have used 4 STR loci of the central deletional hotspot of the dystrophin gene for genetic analysis in sporadic unrelated DMD families. Twenty-nine mothers of sporadic deletional cases were analysed and their carrier status was determined. Eighteen of them showed heterozygosity in the deleted loci suggesting the occurrence of de novo mutations. In 9 cases, the carrier status was indeterminate while 2 showed germline mosaicism. Our observations reiterated the importance of STR analysis in determining the status of mothers of sporadic deletional DMD cases in order to provide proper genetic counselling.

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Section: De Novo M Utations In Sporadic Deletional Duchenne M Uscularmentioning

confidence: 99%

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

Mukherjee

Chaturvedi²,

Srivastava³

et al. 2003

Exp Mol Med

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“…[37][38][39] The frequency of deletions of the DMD gene is greater in affected males resulting from a female gametic mutation (75%) than in those resulting from a male genetic mutation (56%). 40) DMD gene partial duplications account for up to 6 % of DMD and BMD cases.…”

Section: Genetic Testmentioning

confidence: 99%

Female Carriers of Duchenne Muscular Dystrophy

Cho

Choi

2013

J Genet Med

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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.

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“…The deletion analysis was performed by m-PCR using 25 pairs of primers (Pm,3,4,6,8,12,13,17,20,21,22,43,44,45,46,47,48,49,50,51,52,53,55,and 60) of the dystrophin gene (Chamberlain et al, 1988;Beggs et al, 1990;Sinha et al, 1992;Singh et al, 1997). Mutation analysis was carried out using six exonic regions with flanking intronic sequences (Exons 4,6,8,12,17 and 44) in two triplex PCRs (Exons 6,8,17 and Exons 4,12,44).…”

Section: Patientsmentioning

confidence: 99%

“…In about one third of patients, no detectable deletion was observed using m-PCR and Southern blotting, and was therefore presumed to have point mutations (Singh et al, 1997). In order to look for point mutations in the dystrophin gene, six exons of the dystrophin gene (5 proximal and 1 central regions) were screened by using Single Strand Conformation Analysis (SSCA) and Heteroduplex Analysis (HA) in 50 unrelated non-deletional D/BMD patients.…”

Section: Introductionmentioning

confidence: 99%

Point mutation and polymorphism in Duchenne/Becker Muscular Dystrophy (D/BMD) patients

Chaturvedi

Mukherjee²,

Srivastava³

et al. 2001

Exp Mol Med

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Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients

Cited by 35 publications

References 19 publications

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

Female Carriers of Duchenne Muscular Dystrophy

Point mutation and polymorphism in Duchenne/Becker Muscular Dystrophy (D/BMD) patients

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