Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1316

Article

关键词: erythropoietic protoporphyria;    ferrochelatase;    splicing mutation;    missense mutation;   

DOI  :  10.1016/0925-4439(96)00003-8

来源: Elsevier

【 摘 要 】

A ferrochelatase (FC) mRNA lacking exon 4 was detected in a patient with erythropoietic protoporphyria (EPP). The mutation responsible for the exon skipping was a novel one: a G --> C transition at the - 1 position of the exon 4 donor site (nucleotide 463). The efficiency-of missplicing was not 100%. The same mutation could alternatively result in exon 4 skipping or act as a missense mutation (G463 --> C, predicting an Ala155 --> Pro substitution), that inactivates the FC activity almost completely. Both parents were negative for the mutation and DNA fingerprinting indicated that both of them are the biological parents with 99.58% certainty. This is the first report of a de novo mutation in EPP.

【 授权许可】

Free