Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene
Details
Serval ID
serval:BIB_BD1FFC809CC3
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene
Journal
Prenatal Diagnosis
ISSN
0197-3851 (Print)
Publication state
Published
Issued date
05/1997
Volume
17
Number
5
Pages
483-6
Notes
Case Reports
Journal Article --- Old month value: May
Journal Article --- Old month value: May
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.
Keywords
Chorionic Villi Sampling
Humans
Ichthyosis, Lamellar/*diagnosis
Infant, Newborn
Keratinocytes/*enzymology
Male
*Point Mutation
Polymerase Chain Reaction
*Prenatal Diagnosis
Transglutaminases/*genetics
Pubmed
Web of science
Create date
28/01/2008 12:59
Last modification date
20/08/2019 15:31