Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1999197 | Molecular Genetics and Metabolism | 2008 | 4 Pages |
Abstract
The rare autosomal recessive disorder pyridoxine 5′-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvulsant drugs and pyridoxine. Sequencing of the PNPO gene revealed a novel homozygous c.284G>A transition in exon 3, resulting in arginine to histidine substitution and reduced activity of the PNPO mutant to 18% relative to the wild type. This finding enabled molecular prenatal diagnosis in a subsequent pregnancy, accurate genetic counseling in the large inbred family, and population screening.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Morad Khayat, Stanley H. Korman, Pnina Frankel, Zalman Weintraub, Sylvia Hershckowitz, Vered Fleisher Sheffer, Mordechai Ben Elisha, Ronald A. Wevers, Tzipora C. Falik-Zaccai,