S. Susa et al., IDENTIFICATION OF A NOVEL MUTATION OF THE CPO GENE IN A JAPANESE HEREDITARY COPROPORPHYRIA FAMILY, American journal of medical genetics, 80(3), 1998, pp. 204-206
Hereditary coproporphyria (HCP) is an autosomal dominant disease chara
cterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by
a mutation in the CPO gene. Only 11 mutations of the gene have been r
eported in HCP patients. We report another mutation in a Japanese fami
ly. Polymerase chain reaction-single strand conformational polymorphis
m and direct sequence analyses demonstrated a C to T substitution in e
xon 1 of the CPO gene at nucleotide position 85, which lies in the put
ative presequence for targeting to mitochondria. This mutation changes
the codon for glutamine to a termination codon at amino acid position
29, MaeI restriction analysis showed two other carriers in the family
. The C-T mutation is located within a recently proposed putative alte
rnative translation initiation codon (TIC-1), supporting that TIC-1 is
the real TIC rather than TIC-2. (C) 1998 Wiley-Liss, Inc.