Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency

Dianzani, I.; Howells, D.W.; Ponzone, A.; Saleeba, J.A.; Smooker, P.M.; Cotton, R.G.

Journal of Medical Genetics 30(6): 465-469


ISSN/ISBN: 0022-2593
PMID: 8326489
DOI: 10.1136/jmg.30.6.465
Accession: 009684769

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Two new mutations have been identified within the dihydropteridine reductase (DHPR) gene in two patients with DHPR deficiency. The total coding sequence of the cDNA has been screened by chemical cleavage of mismatch in both patients and selected portions of the cDNA have been sequenced. The first mutation identified causes a glycine to aspartic acid substitution at codon 23 and seems particularly frequent in Mediterranean patients. Its occurrence within a glycine string common to the amino-terminal region in NADH dependent enzymes suggests a possible causal mechanism for the defect. The second change involves a tryptophan to glycine substitution at codon 108 and is carried by both alleles in the second patient. It occurs in a motif which shows similarities with a region of dihydrofolate reductase (DHFR) and is highly conserved within different animal species.