Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies

Á Herczegfalvi, G. Tóth, P. Gyürüs, É Morava, E. Endreffy, F. Fodor, F. Mechler, A. László, I. Raskó, B. Melegh

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Deletion pattern analysis of the dystrophin gene was performed in 159 Hungarian patients with Duchenne/Becker muscular dystrophy. In 116 cases (73% of total patients), exon deletions were detected by PCR amplification. In 37 patients (31.9% of patients with a deletion) one exon was deleted, while five or more exons were missing in 40 children (34.4%). With respect to the proximal-distal distribution of the deletions, 90 children (77.6%) had deletions exclusively at the 3' end of the gene, 21 deletions (18.1%) affected only the 5' end, and in five patients (4.3%) large-scale deletions were detected, which affected both regions. Analysis of the breakpoint distribution pattern in the dystrophin gene showed that, similarly to that observed in several Western European populations, intron 44 was involved most frequently (n=35, 15.1%) as a starting breakpoint. In the Hungarian population introns 50 and 52 were the second (n=30, 12.9%) and third (n=29, 12.5%) most frequently observed hot spots at the 3' end; these seem to be characteristic for the Hungarian patients. At the 5' end the breakpoint peak (n=6, 2.58%) was in intron two. As it was proposed by previous national studies, our findings also suggest that certain intronic sequences, characteristic for a population, probably determine the development of a preferential breakpoint profile in this disease. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)552-554
Number of pages3
JournalNeuromuscular Disorders
Volume9
Issue number8
DOIs
Publication statusPublished - Dec 1 1999

Fingerprint

Dystrophin
Duchenne Muscular Dystrophy
Introns
Genes
Exons
Gene Deletion
Population Characteristics
Population
Polymerase Chain Reaction

Keywords

  • Deletion pattern analysis
  • Duchenne/Becker muscular dystrophy
  • Dystrophin gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies. / Herczegfalvi, Á; Tóth, G.; Gyürüs, P.; Morava, É; Endreffy, E.; Fodor, F.; Mechler, F.; László, A.; Raskó, I.; Melegh, B.

In: Neuromuscular Disorders, Vol. 9, No. 8, 01.12.1999, p. 552-554.

Research output: Contribution to journalArticle

Herczegfalvi, Á ; Tóth, G. ; Gyürüs, P. ; Morava, É ; Endreffy, E. ; Fodor, F. ; Mechler, F. ; László, A. ; Raskó, I. ; Melegh, B. / Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies. In: Neuromuscular Disorders. 1999 ; Vol. 9, No. 8. pp. 552-554.
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AU - Morava, É

AU - Endreffy, E.

AU - Fodor, F.

AU - Mechler, F.

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AU - Raskó, I.

AU - Melegh, B.

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AB - Deletion pattern analysis of the dystrophin gene was performed in 159 Hungarian patients with Duchenne/Becker muscular dystrophy. In 116 cases (73% of total patients), exon deletions were detected by PCR amplification. In 37 patients (31.9% of patients with a deletion) one exon was deleted, while five or more exons were missing in 40 children (34.4%). With respect to the proximal-distal distribution of the deletions, 90 children (77.6%) had deletions exclusively at the 3' end of the gene, 21 deletions (18.1%) affected only the 5' end, and in five patients (4.3%) large-scale deletions were detected, which affected both regions. Analysis of the breakpoint distribution pattern in the dystrophin gene showed that, similarly to that observed in several Western European populations, intron 44 was involved most frequently (n=35, 15.1%) as a starting breakpoint. In the Hungarian population introns 50 and 52 were the second (n=30, 12.9%) and third (n=29, 12.5%) most frequently observed hot spots at the 3' end; these seem to be characteristic for the Hungarian patients. At the 5' end the breakpoint peak (n=6, 2.58%) was in intron two. As it was proposed by previous national studies, our findings also suggest that certain intronic sequences, characteristic for a population, probably determine the development of a preferential breakpoint profile in this disease. Copyright (C) 1999 Elsevier Science B.V.

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