A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation

[1] Patients who fulfill two or more of the following criteria are regarded as “probable” and “definite” patients with HHT, respectively: (a) spontaneous recurrent nose bleeds, (b) mucocutaneous telangiectasias, (c) visceral arteriovenous malformations, and (d) a positive family history reflecting H...

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Bibliographic Details
Published in:Neurology India 2019-01, Vol.67 (1), p.312-314
Main Authors: Akagawa, Hiroyuki, Onda, Hideaki, Nomura, Shunsuke, Shinohara, Toyoaki, Kasuya, Hidetoshi
Format: Article
Language:English
Subjects:
Activin Receptors, Type II - genetics
Aged
Arteriovenous malformations
Bevacizumab
Care and treatment
Case studies
Deoxyribonucleic acid
Diagnosis
DNA
Dysplasia
Embolisms
Endoglin - genetics
Female
Genes
Hemorrhage
Hereditary hemorrhagic telangiectasia
Humans
Mutation
Mutation - genetics
Patients
Telangiectasia, Hereditary Hemorrhagic - diagnosis
Telangiectasia, Hereditary Hemorrhagic - genetics
Telangiectasia, Hereditary Hemorrhagic - pathology
Telangiectasis
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Summary:[1] Patients who fulfill two or more of the following criteria are regarded as “probable” and “definite” patients with HHT, respectively: (a) spontaneous recurrent nose bleeds, (b) mucocutaneous telangiectasias, (c) visceral arteriovenous malformations, and (d) a positive family history reflecting HHT inherited in an autosomal dominant manner. After obtaining written informed consent, genomic DNA was extracted from her peripheral blood sample. Recent advances in DNA sequencing allow rapid and accurate genetic testing using small amounts of biological samples, such as buccal swabs, simultaneously covering all genes responsible for causing HHT and its related disorders.
ISSN:0028-3886
1998-4022
DOI:10.4103/0028-3886.253633