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Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
- Source :
-
Clinical Genetics . Apr2011, Vol. 79 Issue 4, p335-344. 10p. 5 Charts, 1 Graph. - Publication Year :
- 2011
-
Abstract
- McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by a unique pattern of telangiectasia and arteriovenous malformations (AVMs). Mutations in one of two genes ( ENG and ACVRL1) cause approximately 85% of cases. Genetic testing impacts clinical management because genotype/phenotype correlations exist, and early preventive screening for internal AVMs is recommended in affected individuals prior to the age at which a diagnosis can typically be made based on clinical criteria. We report 383 consecutive cases in which sequencing and large deletion/duplication analysis were performed simultaneously for endoglin ( ENG) and activin-like receptor kinase 1 ( ACVRL1). We report the first case of mosaicism in an affected individual and 61 novel mutations. We discuss the potential benefits of a diagnostic testing approach for HHT whereby ENG and ACVRL1 are analyzed simultaneously by sequencing and a method which detects large deletion/duplications, rather than by a sequential or reflex testing protocol. We report a case in which a deletion would probably have been missed if large deletion/duplication analysis was performed only if a suspected pathogenic mutation was not first identified by sequencing. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 79
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 59094092
- Full Text :
- https://doi.org/10.1111/j.1399-0004.2010.01596.x