Abstract
The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in two members of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Günther's disease. The first patient was homoallelic for a novel missense mutation: a T to C transition of nucleotide 634 that predicted a serine to proline substitution at residue 212 (S212P). The second patient appeared heteroallelic, carrying the same missense mutation and a nonsense mutation: a C to T change at nucleotide 745, resulting in a premature stop at codon 249, instead of a glutamine (Q249X). The corresponding mutated proteins were expressed inEscherichia coli and no residual activity was observed. A family study was also performed to determine the carrier status.
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Tanigawa, K., Bensidhoum, M., Takamura, N. et al. A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family. Hum Genet 97, 557–560 (1996). https://doi.org/10.1007/BF02281859
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DOI: https://doi.org/10.1007/BF02281859