A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
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.
Wang
X
X
Division of Pediatric Hematology, Columbia University College of Physicians and Surgeons, New York, NY 10032.
Poh-Fitzpatrick
M
M
Carriero
D
D
Ostasiewicz
L
L
Chen
T
T
Taketani
S
S
Piomelli
S
S
D000368:Aged; D001483:Base Sequence; D005091:Exons; D005260:Female; D005294:Ferrochelatase / Q000235:genetics*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017092:Porphyria, Erythropoietic / Q000175:diagnosis / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000032:analysis
D012333:RNA, Messenger; D005294:Ferrochelatase