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Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 1993

I Dianzani, and D W Howells, and A Ponzone, and J A Saleeba, and P M Smooker, and R G Cotton
Istituto di Clinica Pediatrica, Torino, Italy.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009692 Nucleic Acid Heteroduplexes Double-stranded nucleic acid molecules (DNA-DNA or DNA-RNA) which contain regions of nucleotide mismatches (non-complementary). In vivo, these heteroduplexes can result from mutation or genetic recombination; in vitro, they are formed by nucleic acid hybridization. Electron microscopic analysis of the resulting heteroduplexes facilitates the mapping of regions of base sequence homology of nucleic acids. Heteroduplexes, Nucleic Acid,Heteroduplex DNA,Acid Heteroduplexes, Nucleic,DNA, Heteroduplex
D004093 Dihydropteridine Reductase An enzyme that catalyzes the reduction of 6,7-dihydropteridine to 5,6,7,8-tetrahydropteridine in the presence of NADP+. Defects in the enzyme are a cause of PHENYLKETONURIA II. Formerly listed as EC 1.6.99.7. 6,7-Dihydropteridine Reductase,6,7 Dihydropteridine Reductase,Reductase, 6,7-Dihydropteridine,Reductase, Dihydropteridine
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005998 Glycine A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. Aminoacetic Acid,Glycine, Monopotassium Salt,Glycine Carbonate (1:1), Monosodium Salt,Glycine Carbonate (2:1), Monolithium Salt,Glycine Carbonate (2:1), Monopotassium Salt,Glycine Carbonate (2:1), Monosodium Salt,Glycine Hydrochloride,Glycine Hydrochloride (2:1),Glycine Phosphate,Glycine Phosphate (1:1),Glycine Sulfate (3:1),Glycine, Calcium Salt,Glycine, Calcium Salt (2:1),Glycine, Cobalt Salt,Glycine, Copper Salt,Glycine, Monoammonium Salt,Glycine, Monosodium Salt,Glycine, Sodium Hydrogen Carbonate,Acid, Aminoacetic,Calcium Salt Glycine,Cobalt Salt Glycine,Copper Salt Glycine,Hydrochloride, Glycine,Monoammonium Salt Glycine,Monopotassium Salt Glycine,Monosodium Salt Glycine,Phosphate, Glycine,Salt Glycine, Monoammonium,Salt Glycine, Monopotassium,Salt Glycine, Monosodium
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000592 Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy

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