Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817-3T>G in ENG...

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Veröffentlicht in:	Genetic testing and molecular biomarkers 2012-12, Vol.16 (12), p.1419-1423
Hauptverfasser:	Tørring, Pernille M, Kjeldsen, Anette D, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Brusgaard, Klaus
Format:	Artikel
Sprache:	eng
Schlagworte:	Activin Receptors, Type II - genetics Adolescent Antigens, CD - genetics Base Sequence Endoglin Female Genetic screening Genetic Testing Genotype Genotyping Haplotypes Hereditary hemorrhagic telangiectasia Humans Loss of Heterozygosity Male Molecular Sequence Data Mutation Primers Quality control Receptors, Cell Surface - genetics Smad4 protein Smad4 Protein - genetics Telangiectasia, Hereditary Hemorrhagic - genetics
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