Article (Scientific journals)
Dutch Founder SDHB Exon 3 Deletion in Patients with Pheochromocytoma-Paraganglioma in South Africa.
Gordon, Debra M.; Beckers, Pablo; CASTERMANS, Emilie et al.
2021In Endocrine Connections, 11 (1)
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[20493614 - Endocrine Connections] Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa(4).pdf
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Abstract :
[en] OBJECTIVE: Screening studies have established genetic risk profiles for diseases such as multiple endocrine neoplasia type 1 (MEN1) and pheochromocytoma-paraganglioma (PPGL). Founder effects play an important role in regional/national epidemiology of endocrine cancers, particularly PPGL. Founder effects in the Netherlands have been described for various diseases, some of which established themselves in South Africa due to Dutch emigration. The role of Dutch founder effects in South Africa have not been explored in PPGL. DESIGN: We performed a single-center study in South Africa of the germline genetic causes of isolated/syndromic neuroendocrine tumors. METHODS: Next-generation panel and multiplex ligand-dependent probe amplification for endocrine neoplasia risk genes. RESULTS: From a group of 13 patients we identified six with PPGL, four with sporadic or familial isolated pituitary adenomas (FIPA), and three with clinical MEN1; genetic variants were identified in 9/13 cases. We identified the Dutch founder exon 3 deletion in SDHB in two apparently-unrelated individuals with distinct ethnic backgrounds that had metastatic PPGL. Asymptomatic carriers with this Dutch founder SDHB exon 3 deletion were also identified. Other PPGL patients had variants in SDHB, SDHD and three MEN1 variants were identified among MEN1 and young-onset pituitary adenoma patients. CONCLUSIONS: This is the first identification of a Dutch founder effect for PPGL in South Africa. Awareness of the presence of this exon 3 SDHB deletion could promote targeted screening at a local level. Insights into PPGL genetics in South Africa could be achieved by studying existing patient databases for Dutch founder mutations in SDHx genes.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Gordon, Debra M.
Beckers, Pablo ;  Université de Liège - ULiège > GIGA
CASTERMANS, Emilie ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Unité de laboratoire - endocrino - métabolique
Neggers, Sebastian JCMM
ROSTOMYAN, Liliya  ;  Centre Hospitalier Universitaire de Liège - CHU > Département de chirurgie > Service de neurochirurgie
Bours, Vincent ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine
Pétrossians, Patrick  ;  Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Dideberg, Vinciane ;  Université de Liège - ULiège > Département des sciences de la santé publique > Département des sciences de la santé publique
Beckers, Albert ;  Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques
Daly, Adrian  ;  Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques
Language :
English
Title :
Dutch Founder SDHB Exon 3 Deletion in Patients with Pheochromocytoma-Paraganglioma in South Africa.
Publication date :
01 December 2021
Journal title :
Endocrine Connections
eISSN :
2049-3614
Publisher :
BioScientifica, Bristol, United Kingdom
Volume :
11
Issue :
1
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 27 January 2022

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