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Prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by DNA deletion analysis of cultivated amniocytes.

AbstractAIM:
Presentation of a prenatally diagnosed case of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy.
METHODS:
DNA obtained from cultivated amniocytes was analyzed for deletions in the survival motor neuron gene and neuronal apoptosis inhibitory protein gene.
RESULTS:
The fetus was diagnosed as an affected homozygote for deletions in exon 7 and exon 8 of the survival motor neuron gene. No deletions of exon 5 in the neuronal apoptosis inhibitory protein gene were found.
CONCLUSION:
Direct DNA deletion analysis of the survival motor neuron gene and neuronal apoptosis inhibitory protein gene in affected families represents a highly reliable and fast method for prenatal diagnosis of Werdnig-Hoffmann disease.
AuthorsF Stipoljev, J Sertić, V Latin, A Rukavina-Stavljenić, A Kurjak
JournalCroatian medical journal (Croat Med J) Vol. 40 Issue 3 Pg. 433-7 (Sep 1999) ISSN: 0353-9504 [Print] CROATIA
PMID10411975 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Cyclic AMP Response Element-Binding Protein
  • NAIP protein, human
  • Nerve Tissue Proteins
  • Neuronal Apoptosis-Inhibitory Protein
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • DNA
Topics
  • Adult
  • Amniocentesis
  • Amnion (cytology)
  • Cells, Cultured
  • Cyclic AMP Response Element-Binding Protein
  • DNA (analysis, genetics)
  • Exons (genetics)
  • Female
  • Gene Deletion
  • Homozygote
  • Humans
  • Nerve Tissue Proteins (genetics)
  • Neuronal Apoptosis-Inhibitory Protein
  • Pregnancy
  • RNA-Binding Proteins
  • Reproducibility of Results
  • SMN Complex Proteins
  • Spinal Muscular Atrophies of Childhood (diagnosis)

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