Acute intermittent porphyria: Novel missense mutations in the human hydroxymethylbilane synthase gene

Risha B. Ramdall, Luis Cunha, Kenneth H. Astrin, David R. Katz, Karl E. Anderson, Marc Glucksman, Sylvia S. Bottomley, Robert J. Desnick

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Purpose: To identify mutations in families with acute intermittent porphyria, an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase. Methods: Mutations were identified by direct solid phase sequencing. Results: Two novel missense mutations E80G and T78P and three previously reported mutations, R173W, G111R, and the splice site lesion, IVS1+1, were detected, each in an unrelated proband. The causality of the novel missense mutations was demonstrated by expression studies. Conclusion: These findings provide for the precise diagnosis of carriers in these families and further expand the molecular heterogeneity of AIP.

Original languageEnglish (US)
Pages (from-to)290-295
Number of pages6
JournalGenetics in Medicine
Volume2
Issue number5
DOIs
StatePublished - 2000

Keywords

  • Acute intermittent porphyria
  • HMB synthase
  • Hydroxymethylbilane synthase
  • Molecular diagnosis
  • Porphobilinogen deaminase

ASJC Scopus subject areas

  • Genetics(clinical)

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    Ramdall, R. B., Cunha, L., Astrin, K. H., Katz, D. R., Anderson, K. E., Glucksman, M., Bottomley, S. S., & Desnick, R. J. (2000). Acute intermittent porphyria: Novel missense mutations in the human hydroxymethylbilane synthase gene. Genetics in Medicine, 2(5), 290-295. https://doi.org/10.1097/00125817-200009000-00004