SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis (original) (raw)

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• Published: 05 May 1999
• Francesco Tiziano1,
• Stefania Zappata1,
• Maria Alice Donati2,
• Giovanni Neri1 &
• …
• Christina Brahe1

European Journal of Human Genetics volume 7, pages 301–309 (1999)Cite this article

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Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the homozygous absence of the telomeric copy of the survival motor neuron (SMNt) gene, due to deletion, gene conversion or point mutation. SMNt and its homologous centromeric copy (SMNc) encode the SMN protein, which is diffusely present in the cytoplasm and in dot-like structures, called gems, in the nucleus. We have studied the SMN protein in different cell cultures, including fibroblasts, amniocytes and CVS cells from SMA individuals and controls. By immunofluorescence analysis we found a marked reduction in the number of gems in fibroblasts, amniocytes and chorionic villus cells of all SMA patients and foetuses, independent of the type of the genetic defect. We also show that immunolocalisation of the SMN protein may be a useful tool for the characterisation of particular patients of uncertain molecular diagnosis.

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Authors and Affiliations

1. Institute of Medical Genetics, Catholic University, Rome
   Anna Letizia Patrizi, Francesco Tiziano, Stefania Zappata, Giovanni Neri & Christina Brahe
2. Pediatric Hospital Meyer, Florence, Italy
   Maria Alice Donati

Authors

1. Anna Letizia Patrizi
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2. Francesco Tiziano
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3. Stefania Zappata
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4. Maria Alice Donati
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5. Giovanni Neri
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6. Christina Brahe
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Correspondence toChristina Brahe.

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Patrizi, A., Tiziano, F., Zappata, S. et al. SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.Eur J Hum Genet 7, 301–309 (1999). https://doi.org/10.1038/sj.ejhg.5200286

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• Received: 30 July 1998
• Revised: 08 October 1998
• Accepted: 20 October 1998
• Published: 05 May 1999
• Issue Date: 01 April 1999
• DOI: https://doi.org/10.1038/sj.ejhg.5200286

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