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However, in approximately 15% of cases, sequencing analysis and deletion\/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of <jats:italic>ENG<\/jats:italic>.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p>We sequenced the 5'UTR of <jats:italic>ENG<\/jats:italic> for 154 HHT patients without mutations in <jats:italic>ENG<\/jats:italic> or <jats:italic>ACVRL1<\/jats:italic> coding regions. We found a mutation (c.-127C &gt; T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the <jats:italic>ENG<\/jats:italic>, as well as in three other patients, one of which had an affected sibling with the same mutation. <jats:italic>In vitro<\/jats:italic> expression studies showed that a construct with the c.-127C &gt; T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G &gt; A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G &gt; A is a hypomorphic mutation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Our results emphasize the need for the inclusion of the 5'UTR region of <jats:italic>ENG<\/jats:italic> in clinical testing for HHT.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1750-1172-6-85","type":"journal-article","created":{"date-parts":[[2011,12,23]],"date-time":"2011-12-23T07:20:32Z","timestamp":1324624832000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia"],"prefix":"10.1186","volume":"6","author":[{"given":"Kristy","family":"Damjanovich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Langa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco J","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie","family":"McDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa M","family":"Botella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo","family":"Bernabeu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Whitney","family":"Wooderchak-Donahue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinar","family":"Bayrak-Toydemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,12,22]]},"reference":[{"issue":"12","key":"350_CR1","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1097\/01.GIM.0000132689.25644.7C","volume":"48","author":"P Bayrak-Toydemir","year":"2004","unstructured":"Bayrak-Toydemir P, Mao R, Lewin S, McDonald J: Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. 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