Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
نویسندگان
چکیده
منابع مشابه
Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease.
Inherited pheochromocytomas are often part of familial syndromes, especially multiple endocrine neoplasia type 2 (MEN 2), retinal cerebellar hemangioblastomatosis [von Hippel-Lindau (vHL) disease] or neurofibromatosis type 1. It is not clear whether isolated familial pheochromocytoma exists as a separate clinical entity. In a family with pheochromocytomas in three generations and with at least ...
متن کاملInactivating germline von Hippel–Lindau (VHL) mutations
| The von Hippel–Lindau disease is caused by inactivating germline mutations of the VHL tumour suppressor gene and is associated with an increased risk of a variety of tumours in an allele-specific manner. The role of the heterodimeric transcription factor hypoxia-inducible factor (HIF) in the pathogenesis of VHL-defective tumours has been more firmly established during the past 5 years. In add...
متن کاملA patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C
BACKGROUND Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited disease. It is relatively recent that type 2C was identified as a separate group solely presenting with pheochromocytomas. As an illustration, an interesting case is presented of a pregnant woman with refractory hypertension. It proved to be the first manifestation of bilateral pheochromocytomas. The family history ma...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2019
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2019-00235