Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.


Journal Article

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by aberrant vascular development. Mutations in endoglin (ENG) or activin A receptor type II-like 1 (ACVRL1) account for around 90% of HHT patients, 10% of those are large deletions or duplications. We report here the first observation of two distinct, large ENG deletions segregating in one pedigree. An ENG exon 4-7 deletion was observed in a patient with HHT. This deletion was identified in several affected family members. However, some affected family members had an ENG exon 3 deletion instead. These deletions were detected by multiplex ligation-dependent probe amplification and confirmed by mRNA sequencing and an oligo-CGH array. Linkage analysis revealed that one individual with the exon 3 deletion inherited the same chromosome from his mother who has the exon 4-7 deletion. This finding has important clinical implications because it shows that targeted family-specific mutation analysis for exon deletions could have led to the misdiagnosis of some affected family members.

Full Text

Duke Authors

Cited Authors

  • Wooderchak, W; Gedge, F; McDonald, M; Krautscheid, P; Wang, X; Malkiewicz, J; Bukjiok, CJ; Lewis, T; Bayrak-Toydemir, P

Published Date

  • November 2010

Published In

Volume / Issue

  • 78 / 5

Start / End Page

  • 484 - 489

PubMed ID

  • 20412114

Pubmed Central ID

  • 20412114

Electronic International Standard Serial Number (EISSN)

  • 1399-0004

Digital Object Identifier (DOI)

  • 10.1111/j.1399-0004.2010.01418.x


  • eng

Conference Location

  • Denmark