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Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family
Author(s) -
Wooderchak W,
Gedge F,
McDonald M,
Krautscheid P,
Wang X,
Malkiewicz J,
Bukjiok CJ,
Lewis T,
BayrakToydemir P
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01418.x
Subject(s) - exon , genetics , multiplex ligation dependent probe amplification , biology , acvrl1 , mutation , microbiology and biotechnology , endoglin , gene , stem cell , cd34
Wooderchak W, Gedge F, McDonald M, Krautscheid P, Wang X, Malkiewicz J, Bukjiok CJ, Lewis T, Bayrak‐Toydemir P. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. 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.