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Updated: Jun 8, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
Published on: January 17, 2025
A novel LAMA3 mutation in a newborn with junctional epidermolysis bullosa herlitz type
Iolanda Mazzucchelli1, Francesca Garofoli, Lidia Decembrino
1Department of Internal Medicine and Therapeutics, Clinical Pharmacology Unit, University of Pavia, Pavia, Italy. iolanda.mazzucchelli@unipv.it
Abstract:
The case of a male neonate of 41 weeks' gestation who developed blistering of the skin immediately after birth is described. His parents were consanguineous Tunisians. Electron microscopy of a cutaneous biopsy showed skin cleavage within the lamina lucida and immunoepitope mapping revealed a complete absence of laminin 332 expression. These findings referred to the diagnosis of junctional epidermolysis bullosa (JEB) Herlitz type. The neonate died at 3 months of age due to sepsis. Molecular analysis of laminin 332 chain genes LAMA3, LAMB3 and LAMC2 disclosed a novel homozygous nonsense mutation in LAMA3 (p.Y955X). Clinical and laboratory analyses are essential for the diagnosis of JEB subtypes, and molecular analysis screening is crucial to manage a new pregnancy in families with suspected cases of JEB.
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