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


CONCLUSIONS
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.
Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Sveti Duh Hospital,Sveti Duh 64, 10000 Zagreb; Croatia.
F
F
Stipoljev
J
J
Sertić
V
V
Latin
A
A
Rukavina-Stavljenić
A
A
Kurjak
D000328:Adult; D000649:Amniocentesis; D000650:Amnion / Q000166:cytology; D002478:Cells, Cultured; D017362:Cyclic AMP Response Element-Binding Protein; D004247:DNA / Q000032:analysis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics; D051616:Neuronal Apoptosis-Inhibitory Protein; D011247:Pregnancy; D016601:RNA-Binding Proteins; D015203:Reproducibility of Results; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis*
D017362:Cyclic AMP Response Element-Binding Protein; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D004247:DNA