title: Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene.
abstract: Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disease of cornification of the skin. Recently, the gene responsible for type I LI has been identified and mutations have been described. The identification of mutations in families at risk for LI allows a precise and rapid prenatal diagnosis. A family with a previously unreported mutation is described and a prenatal diagnosis based on a simple polymerase chain reaction (PCR) approach is outlined. The molecular diagnosis was confirmed on post-mortem examination of the skin.
authors.affiliation: Unit of Molecular Genetics, CHUV, Switzerland. Daniel.Schorderet@chuv.hospvd.ch
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: M
authors.initials: M
authors.lastname: Huber
authors.forename: R N
authors.initials: RN
authors.lastname: Laurini
authors.forename: G
authors.initials: G
authors.lastname: Von Moos
authors.forename: B
authors.initials: B
authors.lastname: Gianadda
authors.forename: G
authors.initials: G
authors.lastname: Délèze
authors.forename: D
authors.initials: D
authors.lastname: Hohl
mesh_terms: D015193:Chorionic Villi Sampling; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis*; D007231:Infant, Newborn; D015603:Keratinocytes / Q000201:enzymology*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D011503:Transglutaminases