A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family |
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Authors: | Ken Tanigawa Morad Bensidhoum Noboru Takamura Hiroyuki Namba Shunichi Yamashita Hubert de Verneuil Cécile Ged |
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Affiliation: | (1) Department of Preventive Medicine, Atomic Disease Institute, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, 852 Japan Fax: +81 958-49-7117, JP;(2) Département de Biochimie Médicale et Biologie Moléculaire, Université de Bordeaux II 146, Rue Léo Saignat, F-33076 Bordeaux Cedex, France, FR |
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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 in Escherichia coli and no residual activity was observed. A family study was also performed to determine the carrier status. Received: 18 July 1995 |
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