Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Németh, S; Riedl, S; Kriegshäuser, G; Baumgartner-Parzer, S; Concolino, P; Neocleous, V; Phylactou, LA; Borucka-Mankiewicz, M; Onay, H; Tukun, A; Oberkanins, C.
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.
Clin Chim Acta. 2012; 414(3): 211-214.
Doi: 10.1016/j.cca.2012.09.013
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Kriegshäuser Gernot
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- Abstract:
- Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder most commonly caused by defects in the CYP21A2 gene. Neonatal CAH-screening based on 17-hydroxyprogesterone (17-OHP) measurements prevents life-threatening salt wasting conditions in newborns, but results in a considerable false-positive rate. Therefore, efficient second tier tests are required. We developed a reverse-hybridization test strip-based assay (CAH StripAssay) covering the most prevalent CYP21A2 point mutations/small insertions/deletions occurring in Middle European populations. Assay specificity was validated using plasmid clones, and wild-type and mutant reference DNAs. Its practicability was evaluated in 271 samples from patients with CAH, suspected CAH, and dried blood spots from screening-positive newborns. All eleven point mutations and 51% of large deletions/conversions could be unambiguously identified when compared to reference methods (DNA sequencing, MLPA). After exclusion of rare mutations (6.4%) not covered by the StripAssay, the overall detection rate was 85%. Undetected heterozygous deletions/conversions caused a lack of information, but did not result in an incorrect prediction of phenotypes. Our novel CAH StripAssay proved to be a fast (7h) and reliable method for detection of common CYP21A2 mutations. Implemented as a second-tier test in CAH newborn screening, it has the potential to significantly reduce recall rates. Copyright © 2012 Elsevier B.V. All rights reserved.
- Find related publications in this database (using NLM MeSH Indexing)
- 17-alpha-Hydroxyprogesterone - blood
- Adrenal Hyperplasia, Congenital - blood Adrenal Hyperplasia, Congenital - genetics
- Dried Blood Spot Testing -
- Humans -
- Infant, Newborn -
- Point Mutation -
- Polymerase Chain Reaction -
- Sensitivity and Specificity -
- Steroid 21-Hydroxylase - genetics
- Find related publications in this database (Keywords)
- Congenital adrenal hyperplasia (CAH)
- 21-Hydroxylase deficiency
- Newborn screening
- CYP21A2
- 17-Hydroxyprogesterone (17-OHP)
- Reverse-hybridization