Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.

Published

Journal Article

Isolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation pathway. In its classical, severe form, sulfite oxidase deficiency leads to intractable seizures, severe and progressive brain pathology and death at an early age. We report here on clinical features and mutational analysis of the genetic defect in a newborn with sulfite oxidase deficiency. Cultured fibroblasts from this patient exhibited no detectable sulfite oxidase activity, and a unique four base pair deletion was present in the cDNA isolated from the same source. Identification of the same genetic defect in a heterozygous state in each of the parents and the monitoring of subsequent pregnancies in this family by DNA-based prenatal diagnosis are also described. The deletion mutation was identified in a homozygous state in uncultured chorionic villus tissue from the second pregnancy that was subsequently terminated. In the third pregnancy, the presence of sulfite oxidase activity and identification of the mutation in a heterozygous state suggested that the fetus was not affected. This pregnancy resulted in the birth of a normal child.

Full Text

Duke Authors

Cited Authors

  • Johnson, JL; Rajagopalan, KV; Renier, WO; Van der Burgt, I; Ruitenbeek, W

Published Date

  • May 2002

Published In

Volume / Issue

  • 22 / 5

Start / End Page

  • 433 - 436

PubMed ID

  • 12001203

Pubmed Central ID

  • 12001203

International Standard Serial Number (ISSN)

  • 0197-3851

Digital Object Identifier (DOI)

  • 10.1002/pd.335

Language

  • eng

Conference Location

  • England