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An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis
Author(s) -
De Luca Caterina,
Bevilacqua Elisa,
Badr Dominique A.,
Cannie Mieke M.,
Sanchez Teresa C.,
Segers Valérie,
Keymolen Kathelijn,
Jani Jacques C.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61535
Subject(s) - telangiectases , acvrl1 , medicine , prenatal diagnosis , telangiectasia , mutation , venous malformation , mucocutaneous zone , family history , rare disease , fetus , disease , pediatrics , pathology , gene , genetics , endoglin , surgery , pregnancy , biology , stem cell , cd34
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Curaçao 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.