title: A novel LAMA3 mutation in a newborn with junctional epidermolysis bullosa herlitz type.
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.
authors.affiliation: Department of Internal Medicine and Therapeutics, Clinical Pharmacology Unit, University of Pavia, Pavia, Italy. iolanda.mazzucchelli@unipv.it
authors.forename: Iolanda
authors.initials: I
authors.lastname: Mazzucchelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Garofoli
authors.forename: Lidia
authors.initials: L
authors.lastname: Decembrino
authors.forename: Daniele
authors.initials: D
authors.lastname: Castiglia
authors.forename: Gianluca
authors.initials: G
authors.lastname: Tadini
authors.forename: Andrea
authors.initials: A
authors.lastname: Bellingeri
authors.forename: Alessandro
authors.initials: A
authors.lastname: Borghesi
authors.forename: Chryssoula
authors.initials: C
authors.lastname: Tzialla
authors.forename: Paolo
authors.initials: P
authors.lastname: Manzoni
authors.forename: Mauro
authors.initials: M
authors.lastname: Stronati
mesh_terms: D001706:Biopsy; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D007797:Laminin / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction
chemical_list: D018389:Codon, Nonsense; D007797:Laminin; C095567:laminin alpha 3; D004247:DNA