Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test

Pediatric Research
Chike ItemW M Strobl

Abstract

Newborn screening for galactosemia yields a high number of false-positive results. Confirmatory DNA testing for unknown galactosemia mutations on the initial positive sample using novel techniques of mutation detection tenders itself to reduce the recall rate. The potential benefits of confirmatory DNA testing, however, could be offset by the detection of a high percentage of galactosemia carriers, Duarte/galactosemia compound heterozygotes, and infants with benign sequence changes in the galactose-1-phosphate uridyltransferase (GALT) gene among infants with a positive biochemical screening test. Our aim was to determine the frequency and allelic distribution of all sequence changes in the GALT gene in 110 newborns with a positive total galactose screening test among 43,688 Austrian newborns screened consecutively. We found that only 20 of the 110 probands carried at least one known or novel candidate galactosemia mutation (one galactosemia homozygote, 7 Duarte/galactosemia compounds, 12 carriers) as judged by denaturing gradient gel electrophoresis and cleavage fragment length polymorphism analysis. Four novel galactosemia candidate mutations (Q9H, A46fsdelCAGCT, M129T, L342I) were identified. Sixty-seven probands had no detec...Continue Reading

References

Oct 1, 1992·Genomics·N D LeslieL J Elsas
Dec 1, 1992·Biochemical Medicine and Metabolic Biology·D M FrazierH N Kirkman
Feb 1, 1992·Clinical Biochemistry·F DiepenbrockJ Sander
Jul 1, 1973·Annals of Human Genetics·W G Bergren, G N Donnell
Apr 8, 1971·The New England Journal of Medicine·V E ShihR A MacCready
Jan 1, 1995·European Journal of Pediatrics·S Schweitzer
Jan 1, 1995·European Journal of Pediatrics·R Gitzelmann, N U Bosshard
Apr 29, 1998·Nature Biotechnology·D J FuH Köster
Jun 6, 1998·Science·M U KoppA Manz
May 26, 1998·Human Mutation·M CagganaK A Pass
Oct 10, 1998·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·V SchusterY S Shin
Dec 10, 1998·Genome Research·K L GundersonM S Chee
Jun 12, 1999·Pediatrics International : Official Journal of the Japan Pediatric Society·H OnoM Hamakawa
Jan 8, 2000·Acta Paediatrica. Supplement·E R McCabe, L L McCabe
Mar 7, 2000·Pediatrics International : Official Journal of the Japan Pediatric Society·H OnoM Hamakawa
Apr 11, 2000·Nucleic Acids Research·D SchmalzingD Ehrlich
Jun 29, 2000·Journal of Chromatography. B, Biomedical Sciences and Applications·J Ren
Jul 13, 2000·Archives of Pediatrics & Adolescent Medicine·C Kwon, P M Farrell
Mar 23, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·L J Elsas, K Lai

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Citations

Oct 29, 2008·Journal of Inherited Metabolic Disease·J Velázquez-AragónA González-del Angel
May 7, 2009·Journal of Inherited Metabolic Disease·J S CameloS Moysés Jorge
Mar 31, 2010·Journal of Perinatology : Official Journal of the California Perinatal Association·H C WooA R Laptook
Apr 27, 2016·Journal of Inherited Metabolic Disease·L Varela-LemaM López-García
Jun 14, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Pelin Teke KisaNur Arslan

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