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

Autor: W. O. Renier, Jean L. Johnson, Wim Ruitenbeek, C.J.A.M. van der Burgt, K.V. Rajagopalan
Rok vydání: 2002
Předmět:
DNA
Complementary
Elucidation of hereditary disorders and their molecular diagnosis
DNA Mutational Analysis
Chorionic villus sampling
Pathofysiologie van Hersenen en Gedrag
Prenatal diagnosis
Inborn errors of metabolism
Pathophysiology of Brain and Behaviour
Biology
medicine.disease_cause
Polymerase Chain Reaction
chemistry.chemical_compound
Pregnancy
Sulfite oxidase
medicine
Humans
Oxidoreductases Acting on Sulfur Group Donors
Erfelijke stofwisselingsziekten
Gene
Sulfite oxidase deficiency
Cells
Cultured
Genetics (clinical)
Fetus
Mutation
medicine.diagnostic_test
Infant
Newborn
Brain
Brain Diseases
Metabolic
Inborn
Obstetrics and Gynecology
Fibroblasts
Magnetic Resonance Imaging
Molecular biology
Chorionic Villi Sampling
chemistry
Mutation testing
Female
Chorionic Villi
Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
Gene Deletion
Zdroj: Prenatal Diagnosis, 22, 433-6
Prenatal Diagnosis, 22, 5, pp. 433-6
ISSN: 1097-0223
0197-3851
DOI: 10.1002/pd.335
Popis: Item does not contain fulltext 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.
Databáze: OpenAIRE
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