Resumé
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Genetic Testing and Molecular Biomarkers |
| Vol/bind | 16 |
| Udgave nummer | 12 |
| Sider (fra-til) | 1419-1423 |
| Antal sider | 5 |
| ISSN | 1945-0265 |
| DOI | |
| Status | Udgivet - 1. dec. 2012 |
Fingeraftryk
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Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia. / Tørring, Pernille M; Kjeldsen, A.D.; Ousager, L.B.; Brasch-Andersen, C.; Brusgaard, K.
I: Genetic Testing and Molecular Biomarkers, Bind 16, Nr. 12, 01.12.2012, s. 1419-1423.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
TY - JOUR
T1 - Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia
AU - Tørring, Pernille M
AU - Kjeldsen, A.D.
AU - Ousager, L.B.
AU - Brasch-Andersen, C.
AU - Brusgaard, K.
PY - 2012/12/1
Y1 - 2012/12/1
N2 - Background: 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) initially seemed to be homozygous for the mutation. Aim: To explore the possibility of allelic dropout causing a false result in this patient. Methods: Mutation analysis of additional family members was performed and haplotype analysis carried out. New primers were designed to reveal the presence of a possible sequence variant, which could explain the presumed allelic dropout. Results: Allelic dropout caused by a six-nucleotide duplication close to the standard reverse primer was the assumed cause of a false homozygous diagnosis. Conclusion: Sequence variants outside of the primer regions can be the cause of allelic dropout, creating unforeseen errors in genotyping. Our finding emphasizes the need for careful quality control in all molecular genetic studies. © Copyright 2012, Mary Ann Liebert, Inc.
AB - Background: 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) initially seemed to be homozygous for the mutation. Aim: To explore the possibility of allelic dropout causing a false result in this patient. Methods: Mutation analysis of additional family members was performed and haplotype analysis carried out. New primers were designed to reveal the presence of a possible sequence variant, which could explain the presumed allelic dropout. Results: Allelic dropout caused by a six-nucleotide duplication close to the standard reverse primer was the assumed cause of a false homozygous diagnosis. Conclusion: Sequence variants outside of the primer regions can be the cause of allelic dropout, creating unforeseen errors in genotyping. Our finding emphasizes the need for careful quality control in all molecular genetic studies. © Copyright 2012, Mary Ann Liebert, Inc.
UR - http://www.scopus.com/inward/record.url?scp=84869410471&partnerID=8YFLogxK
U2 - 10.1089/gtmb.2012.0230
DO - 10.1089/gtmb.2012.0230
M3 - Journal article
VL - 16
SP - 1419
EP - 1423
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
SN - 1945-0265
IS - 12
ER -