Article
DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.
The Journal of investigative dermatology - 1 Mar 2007
Akiyama Masashi, Titeux Matthias, Sakai Kaori, McMillan James R, Tonasso Laure, Calvas Patrick, Jossic Frederique, Hovnanian Alain, Shimizu Hiroshi
Abstract excerpt
Until the identification of ABCA12 as the causative gene, prenatal diagnosis (PD) for harlequin ichthyosis (HI) had been performed by electron microscopic observation of fetal skin biopsy samples. We report the first case of HI DNA-based PD. Direct sequence analysis of ABCA12 revealed that the deceased proband was a compound heterozygote for two novel mutations. The maternal nonsense mutation p.Ser1249Term likely...
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