An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis
| Autor: | Caterina De Luca, Jacques Jani, Dominique A. Badr, Teresa Cos Sanchez, Valérie Segers, Kathelijn Keymolen, Elisa Bevilacqua, Mieke Cannie |
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| Přispěvatelé: | Radiology, Supporting clinical sciences, Clinical sciences, Medical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities ACVRL1 gene business.industry Mucocutaneous zone vein of Galen Autosomal dominant trait Arteriovenous malformation Prenatal diagnosis Telangiectases Gene mutation medicine.disease Dermatology hemic and lymphatic diseases Prenatal Diagnosis Genetics medicine otorhinolaryngologic diseases hereditary hemorrhagic telangiectasia Family history medicine.symptom Telangiectasia business Genetics (clinical) |
| DOI: | 10.1002/ajmg.a.61535 |
| Popis: | Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Curacao criteria, include the following: recurrent epistaxis or nighttime nose bleeding, mucocutaneous telangiectases, visceral arteriovenous malformation, or an appropriate family history. The diagnosis is classified as definite if three criteria are present, possible if two criteria are present, and unlikely if only one is present. Nowadays, the confirmation of HHT diagnosis is based on molecular genetic studies. It has been showed that only mutations of genes encoding proteins within the transforming growth factor beta signaling pathway were responsible for the manifestation of the disease. The vein of Galen malformation (VOGM) as a presenting sign of HHT is rare. The prenatal diagnosis of HHT is even rarer. Herein, we present a case of prenatally diagnosed case of HHT based on the presence of VOGM in the fetus. To our knowledge, it is the first time that the gene mutation discovered in this case manifested as VOGM in the fetal life. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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