PMID: 9185181May 1, 1997Paper

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy

Neuromuscular Disorders : NMD
I NaomF Muntoni

Abstract

Prenatal diagnosis was carried out in five merosin-deficient congenital muscular dystrophy (CMD) families. We studied both laminin-alpha 2 chain expression in trophoblast using immunocytochemistry and linkage analysis to the LAMA2 locus. In four families there was good agreement between the immunocytochemistry and linkage analysis results: in one case the trophoblast was negative for LAMA2 expression and haplotype analysis suggested the foetus was affected; in the other three cases the laminin-alpha 2 chain expression was normal and foetuses were found to be carriers. In the remaining family, a case of partial laminin-alpha 2 chain expression, the immunostaining of the trophoblast was weaker compared to the control. Linkage analysis, however, could not be performed because of maternal DNA contamination. After termination of pregnancy, the foetal muscle was studied and suggested weak laminin-alpha 2 chain expression. The haplotype analysis however showed that the foetus was probably a carrier, unless a double recombinant event had occurred. We conclude that a combination of immunocytochemistry and linkage analysis can be used for the prenatal diagnosis of merosin deficient CMD. The results are easy to interpret in families with ...Continue Reading

References

Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Jul 1, 1995·Neuromuscular Disorders : NMD·C A SewryV Dubowitz
Dec 1, 1994·Neuropediatrics·T VoitF M Tomé
Mar 4, 1995·Lancet·F MuntoniV Dubowitz

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Citations

Jul 17, 1998·Journal of the Neurological Sciences· Walton
Jun 15, 1999·Early Human Development·D NassM Sadeh
Jun 18, 2002·Journal of Cellular and Molecular Medicine·Emilia Manole, Marilena Alexianu
Nov 14, 2006·Biochimica Et Biophysica Acta·Matthew T Lisi, Ronald D Cohn
Mar 23, 2000·American Journal of Human Genetics·H B YeonC E Seidman
Oct 31, 2000·Microscopy Research and Technique·K A McGowan, M P Marinkovich
Feb 19, 2000·Microscopy Research and Technique·C A Sewry
Aug 24, 2004·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Lydia U YamamotoMariz Vainzof
Oct 26, 2018·Fetal and Pediatric Pathology·Erdem FadilogluMehmet Sinan Beksac

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