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. Alhawari, H., Obeidat, Z., Wahbeh, L., Mismar, A., Younis, N., Jafar, H., Momani, M., Alsabatin, N., Awidi, A., & Alhawari, H. Blood Pressure, 33(1):2355268, December, 2024. doi abstract bibtex INTRODUCTION: Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the VHL 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. METHODS: The VHL 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. RESULTS: 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. CONCLUSION: 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.
@article{alhawari_discovering_2024,
title = {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},
volume = {33},
issn = {1651-1999},
doi = {10.1080/08037051.2024.2355268},
abstract = {INTRODUCTION: Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the VHL 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.
METHODS: The VHL 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.
RESULTS: 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.
CONCLUSION: 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.},
language = {eng},
number = {1},
journal = {Blood Pressure},
author = {Alhawari, Hussein and Obeidat, Zaina and Wahbeh, Lina and Mismar, Ayman and Younis, Nedal and Jafar, Hanan and Momani, Munther and Alsabatin, Nedal and Awidi, Abdalla and Alhawari, Hussam},
month = dec,
year = {2024},
pmid = {38824681},
keywords = {Adrenal Gland Neoplasms, Adult, Female, Genetic Variation, Genetic variant, Humans, Hypertension, Male, Middle Aged, Paraganglioma, Pedigree, Phenotype, Pheochromocytoma, Von Hippel Lindau syndrome, Von Hippel-Lindau Tumor Suppressor Protein, von Hippel-Lindau Disease},
pages = {2355268},
}
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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. METHODS: The VHL 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. RESULTS: 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. CONCLUSION: 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.","language":"eng","number":"1","journal":"Blood Pressure","author":[{"propositions":[],"lastnames":["Alhawari"],"firstnames":["Hussein"],"suffixes":[]},{"propositions":[],"lastnames":["Obeidat"],"firstnames":["Zaina"],"suffixes":[]},{"propositions":[],"lastnames":["Wahbeh"],"firstnames":["Lina"],"suffixes":[]},{"propositions":[],"lastnames":["Mismar"],"firstnames":["Ayman"],"suffixes":[]},{"propositions":[],"lastnames":["Younis"],"firstnames":["Nedal"],"suffixes":[]},{"propositions":[],"lastnames":["Jafar"],"firstnames":["Hanan"],"suffixes":[]},{"propositions":[],"lastnames":["Momani"],"firstnames":["Munther"],"suffixes":[]},{"propositions":[],"lastnames":["Alsabatin"],"firstnames":["Nedal"],"suffixes":[]},{"propositions":[],"lastnames":["Awidi"],"firstnames":["Abdalla"],"suffixes":[]},{"propositions":[],"lastnames":["Alhawari"],"firstnames":["Hussam"],"suffixes":[]}],"month":"December","year":"2024","pmid":"38824681","keywords":"Adrenal Gland Neoplasms, Adult, Female, Genetic Variation, Genetic variant, Humans, Hypertension, Male, Middle Aged, Paraganglioma, Pedigree, Phenotype, Pheochromocytoma, Von Hippel Lindau syndrome, Von Hippel-Lindau Tumor Suppressor Protein, von Hippel-Lindau Disease","pages":"2355268","bibtex":"@article{alhawari_discovering_2024,\n\ttitle = {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},\n\tvolume = {33},\n\tissn = {1651-1999},\n\tdoi = {10.1080/08037051.2024.2355268},\n\tabstract = {INTRODUCTION: Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the VHL 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.\nMETHODS: The VHL 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.\nRESULTS: 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.\nCONCLUSION: 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.},\n\tlanguage = {eng},\n\tnumber = {1},\n\tjournal = {Blood Pressure},\n\tauthor = {Alhawari, Hussein and Obeidat, Zaina and Wahbeh, Lina and Mismar, Ayman and Younis, Nedal and Jafar, Hanan and Momani, Munther and Alsabatin, Nedal and Awidi, Abdalla and Alhawari, Hussam},\n\tmonth = dec,\n\tyear = {2024},\n\tpmid = {38824681},\n\tkeywords = {Adrenal Gland Neoplasms, Adult, Female, Genetic Variation, Genetic variant, Humans, Hypertension, Male, Middle Aged, Paraganglioma, Pedigree, Phenotype, Pheochromocytoma, Von Hippel Lindau syndrome, Von Hippel-Lindau Tumor Suppressor Protein, von Hippel-Lindau Disease},\n\tpages = {2355268},\n}\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n","author_short":["Alhawari, H.","Obeidat, Z.","Wahbeh, L.","Mismar, A.","Younis, N.","Jafar, H.","Momani, M.","Alsabatin, N.","Awidi, A.","Alhawari, H."],"key":"alhawari_discovering_2024","id":"alhawari_discovering_2024","bibbaseid":"alhawari-obeidat-wahbeh-mismar-younis-jafar-momani-alsabatin-etal-discoveringanovelgeneticvariantin11familymemberswhohadisolatedpheochromocytomalinkedtovonhippellindauvhlsyndromealigningwiththetype2cphenotype-2024","role":"author","urls":{},"keyword":["Adrenal Gland Neoplasms","Adult","Female","Genetic Variation","Genetic variant","Humans","Hypertension","Male","Middle Aged","Paraganglioma","Pedigree","Phenotype","Pheochromocytoma","Von Hippel Lindau syndrome","Von Hippel-Lindau Tumor Suppressor Protein","von Hippel-Lindau Disease"],"metadata":{"authorlinks":{}},"downloads":0,"html":""},"bibtype":"article","biburl":"https://bibbase.org/zotero-group/VHLA/5946245","dataSources":["ePsAR3pjtvuSxA4wN"],"keywords":["adrenal gland neoplasms","adult","female","genetic variation","genetic variant","humans","hypertension","male","middle aged","paraganglioma","pedigree","phenotype","pheochromocytoma","von hippel lindau syndrome","von hippel-lindau tumor suppressor protein","von hippel-lindau disease"],"search_terms":["discovering","novel","genetic","variant","family","members","isolated","pheochromocytoma","linked","von","hippel","lindau","vhl","syndrome","aligning","type","phenotype","alhawari","obeidat","wahbeh","mismar","younis","jafar","momani","alsabatin","awidi","alhawari"],"title":"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","year":2024}