PMID: 9160387Apr 1, 1997Paper

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa

Prenatal Diagnosis
A M ChristianoJ Uitto

Abstract

Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due of life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB), there has been a demand for prenatal diagnosis from families at risk for recurrence. Previously, the only reliable method of prenatal diagnosis of EB was a fetal skin biopsy performed at 16-20 weeks' gestation and analysed by electron microscopy. Recently, the genes LAMA3, LAMB3, and LAMC2, encoding the polypeptide subunits of laminin 5, an anchoring filament protein, have been shown to contain mutations in H-JEB. In this study, direct detection of pathogenetic mutations in the laminin 5 genes was used to perform polymerase chain reaction (PCR)-based prenatal testing. DNA was obtained by chorionic villus sampling (CVS) at 10-15 weeks or amniocentesis at 12-19 weeks' gestation in 15 families at risk for recurrence of JEB. In 13 cases, the fetus was predicted to be either genetically normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in all cases by the birth of a healthy child. In...Continue Reading

References

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Citations

May 16, 1998·Experimental Dermatology·J A McGrath, A H Handyside
Feb 24, 2005·Clinical and Experimental Dermatology·H FassihiJ A McGrath
Dec 19, 2008·Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution·Marianna Bei
Jan 13, 2006·The British Journal of Dermatology·H FassihiJ A McGrath
Jan 10, 2003·The Journal of Investigative Dermatology. Symposium Proceedings·Jouni UittoFranziska Ringpfeil
Oct 31, 2000·Microscopy Research and Technique·K A McGowan, M P Marinkovich
Oct 23, 2004·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Marianna BeiRichard Maas
Mar 4, 2014·PloS One·Konstadina GrivaStanton P Newman
May 10, 2006·British Journal of Hospital Medicine·John A McGrath, Jemima E Mellerio

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