Premium
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda
Author(s) -
McManus Julie F.,
Begley C. Glenn,
Sassa S.,
Ratnaike Sujiva
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:5<412::aid-humu11>3.0.co;2-t
Subject(s) - exon , genetics , missense mutation , biology , uroporphyrinogen iii decarboxylase , porphyria cutanea tarda , nonsense mutation , compound heterozygosity , porphyria , mutation , stop codon , microbiology and biotechnology , gene , endocrinology , biochemistry , heme , enzyme
We have characterised three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. The first of these was a G to A substitution in the 5′ splice junction of exon 4 which generated an mRNA that lacked exon 4. The second was a nonsense mutation in exon 5 which changed the arginine residue at position 142 to a stop codon, and the third mutation, also in exon 5, was a triple base substitution from nucleotide position 417 to 419. This mutation encompassed two codons but only changed the amino acid predicted from the second codon, resulting in the replacement of valine with glutamine at position 134. This missense mutation has been described previously by Meguro et al. 1994, on one allele in a compound heterozygote with hepatoerythropoietic porphyria. This is the third case of an hepatoerythropoietic porphyria mutation in an individual diagnosed with familial porphyria cutanea tarda. Hum Mutat 13:412–412, 1999. © 1999 Wiley‐Liss, Inc.