Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE) View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-12

AUTHORS

Anne Romstad, H. Serap Kalkanoğlu, Turgay Coşkun, Mübeccel Demirkol, Aysegül Tokatli, Ali Dursun, Tolunay Baykal, Imran Özalp, Per Guldberg, Flemming Güttler

ABSTRACT

Dihydropteridine reductase (DHPR) catalyses the conversion of quinonoid dihydrobiopterin (qBH2) to tetrahydrobiopterin (BH4), which serves as the obligatory cofactor for the aromatic amino acid hydroxylases. DHPR deficiency, caused by mutations in the QDPR gene, results in hyperphenylalaninemia and deficiency of various neurotransmitters in the central nervous system, with severe neurological symptoms as a consequence. We have studied, at the clinical and molecular levels, 17 patients belonging to 16 Turkish families with DHPR deficiency. The patients were detected at neonatal screening for hyperphenylalaninemia or upon the development of neurological symptoms. To identify the disease causing molecular defects, we developed a sensitive screening method that rapidly scans the entire open reading frame and all splice sites of the QDPR gene. This method combines PCR amplification and "GC-clamping" of each of the seven exonic regions of QDPR, resolution of mutations by denaturing gradient gel electrophoresis (DGGE), and identification of mutations by direct sequence analysis. A total of ten different mutations were identified, of which three are known (G23D, Y150C, R221X) and the remaining are novel (G17R, G18D, W35fs, Q66R, W90X, S97fs and G149R). Six of these mutations are missense variants, two are nonsense mutations, and two are frameshift mutations. All patients had homoallelic genotypes, which allowed the establishment of genotype-phenotype associations. Our findings suggest that DGGE is a fast and efficient method for detection of mutations in the QDPR gene, which may be useful for confirmatory DNA-based diagnosis, genetic counselling and prenatal diagnosis in DHPR deficiency. More... »

PAGES

546-553

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390000407

DOI

http://dx.doi.org/10.1007/s004390000407

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1036523169

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11153907


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