Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis Academic Article Article uri icon

Overview

MeSH Major

  • Alzheimer Disease
  • Amyloid beta-Protein Precursor
  • Mitochondria

abstract

  • Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) is an autosomal dominant skin disorder caused by mutations in keratins 1 and 10. We have used direct gene sequencing to ascertain the status of a 15 week fetus of parents whose first child was affected with this disorder. The parents show no clinical signs of epidermolytic hyperkeratosis but were concerned about the possibility of transmitting the disorder due to germline mosaicism. Molecular analysis of the affected son revealed a G to A mutation in codon 156 of keratin 10, resulting in an arginine to histidine substitution within the highly conserved 1A region. Codon 156 has been previously identified as a mutational hot spot and substitutions of this arginine residue are very common in epidermolytic hyperkeratosis patients. Analysis of genomic DNA isolated from amniotic cells showed that the fetus did not harbour this mutation and a healthy infant was eventually born that was unaffected by this disorder.

publication date

  • August 1998

Research

keywords

  • Academic Article

Identity

Digital Object Identifier (DOI)

  • 10.1002/(SICI)1097-0223(199808)18:8<826::AID-PD360>3.0.CO;2-5

PubMed ID

  • 9742571

Additional Document Info

start page

  • 826

end page

  • 30

volume

  • 18

number

  • 8