A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing

Biochim Biophys Acta. 1993 Apr 30;1181(2):198-200. doi: 10.1016/0925-4439(93)90112-e.

Abstract

An aberrant ferrochelatase mRNA lacking exon 10 was found in a patient with erythropoietic protoporphyria (EPP). In her genomic DNA an A-->T transversion at position -3 of the donor site of intron 10 appeared to be responsible for the exon skipping. Both the patient and her sister were heterozygous for this mutation.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Base Sequence
  • Exons
  • Female
  • Ferrochelatase / genetics*
  • Gene Deletion
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Porphyria, Erythropoietic / diagnosis
  • Porphyria, Erythropoietic / genetics*
  • RNA Splicing*
  • RNA, Messenger / analysis

Substances

  • RNA, Messenger
  • Ferrochelatase