Discovering a novel genetic variant in 11 family members who had isolated pheochromocytoma linked to von Hippel-Lindau (VHL) syndrome, aligning with the type 2c phenotype

Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the tumour suppressor gene. In this study, we introduce a novel genetic variant found in 11 family members diagnosed initially with isolated Pheochromocytoma. Subsequent findings reveale...

Full description

Saved in:
Bibliographic Details
Published in:Blood pressure 2024-12, Vol.33 (1), p.2355268-2355268
Main Authors: Alhawari, Hussein, Obeidat, Zaina, Wahbeh, Lina, Mismar, Ayman, Younis, Nedal, Jafar, Hanan, Momani, Munther, Alsabatin, Nedal, Awidi, Abdalla, Alhawari, Hussam
Format: Article
Language:English
Subjects:
Adrenal Gland Neoplasms - genetics
Adult
Female
Genetic variant
Genetic Variation
Humans
Hypertension
Male
Middle Aged
Paraganglioma
Pedigree
Phenotype
Pheochromocytoma
Pheochromocytoma - genetics
Von Hippel Lindau syndrome
von Hippel-Lindau Disease - genetics
Von Hippel-Lindau Tumor Suppressor Protein - genetics
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the tumour suppressor gene. In this study, we introduce a novel genetic variant found in 11 family members diagnosed initially with isolated Pheochromocytoma. Subsequent findings revealed its association with VHL syndrome and corresponds to the Type 2 C phenotype. The gene was amplified through the utilisation of the polymerase chain reaction (PCR). PCR fragments were sequenced using bidirectional Sanger sequencing, using BigDye™ Terminator v3.1 Cycle Sequencing Kit, running on the 3500 genetic analyser. Results were assembled and analysed Using Software SeqA and chromas pro. A heterozygous in-frame duplication of three nucleotides, specifically ATG, c.377_379dup; p.Asp126dup in exon 2, was identified in all the patients tested within the pedigree. In this study, we disclose the identification of a novel genetic variant in a Jordanian family, affecting eleven family members with pheochromocytoma associated with VHL disease. This finding underscores the importance of screening family members and contemplating genetic testing for individuals newly diagnosed with pheochromocytoma and could enhance our comprehension of the potential adverse consequences associated with VHL germline mutations.
ISSN:0803-7051
1651-1999
DOI:10.1080/08037051.2024.2355268