PMID- 34939938
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220224
IS  - 2049-3614 (Print)
IS  - 2049-3614 (Electronic)
IS  - 2049-3614 (Linking)
VI  - 11
IP  - 1
DP  - 2022 Jan 31
TI  - Dutch founder SDHB exon 3 deletion in patients with 
      pheochromocytoma-paraganglioma in South Africa.
LID - 10.1530/EC-21-0560 [doi]
LID - e210560
AB  - 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 
      the 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 has 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, 
      Sanger sequencing and multiplex ligand-dependent probe amplification for 
      endocrine neoplasia risk genes. RESULTS: From a group of 13 patients, we 
      identified 6 with PPGL, 4 with sporadic or familial isolated pituitary adenomas, 
      and 3 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 SDHBexon 3 deletion were also 
      identified. Other PPGL patients had variants in SDHB, and SDHD and three 
      MEN1variants 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.
FAU - Gordon, Debra M
AU  - Gordon DM
AD  - University of the Witwatersrand (WITS) Donald Gordon Medical Centre, Parktown, 
      Johannesburg, South Africa.
FAU - Beckers, Pablo
AU  - Beckers P
AD  - Department of Human Genetics, Centre Hospitalier Universitaire de Liege, Liege 
      Universite, Liege, Belgium.
FAU - Castermans, Emilie
AU  - Castermans E
AD  - Department of Human Genetics, Centre Hospitalier Universitaire de Liege, Liege 
      Universite, Liege, Belgium.
FAU - Neggers, Sebastian J C M M
AU  - Neggers SJCMM
AD  - Department of Endocrinology, Erasmus University Medical Center, Rotterdam, The 
      Netherlands.
FAU - Rostomyan, Liliya
AU  - Rostomyan L
AD  - Department of Endocrinology, Centre Hospitalier Universitaire de Liege, Liege 
      Universite, Liege, Belgium.
FAU - Bours, Vincent
AU  - Bours V
AD  - Department of Human Genetics, Centre Hospitalier Universitaire de Liege, Liege 
      Universite, Liege, Belgium.
FAU - Petrossians, Patrick
AU  - Petrossians P
AD  - Department of Endocrinology, Centre Hospitalier Universitaire de Liege, Liege 
      Universite, Liege, Belgium.
FAU - Dideberg, Vinciane
AU  - Dideberg V
AD  - Department of Human Genetics, Centre Hospitalier Universitaire de Liege, Liege 
      Universite, Liege, Belgium.
FAU - Beckers, Albert
AU  - Beckers A
AD  - Department of Endocrinology, Centre Hospitalier Universitaire de Liege, Liege 
      Universite, Liege, Belgium.
FAU - Daly, Adrian F
AU  - Daly AF
AUID- ORCID: 0000-0001-6130-2975
AD  - Department of Endocrinology, Centre Hospitalier Universitaire de Liege, Liege 
      Universite, Liege, Belgium.
LA  - eng
PT  - Journal Article
DEP - 20220131
PL  - England
TA  - Endocr Connect
JT  - Endocrine connections
JID - 101598413
PMC - PMC8859937
OTO - NOTNLM
OT  - Dutch
OT  - Netherlands
OT  - SDHB
OT  - South Africa
OT  - founder mutation
OT  - paraganglioma
OT  - pheochromocytoma
EDAT- 2021/12/24 06:00
MHDA- 2021/12/24 06:01
PMCR- 2021/12/23
CRDT- 2021/12/23 12:39
PHST- 2021/12/14 00:00 [received]
PHST- 2021/12/23 00:00 [accepted]
PHST- 2021/12/24 06:00 [pubmed]
PHST- 2021/12/24 06:01 [medline]
PHST- 2021/12/23 12:39 [entrez]
PHST- 2021/12/23 00:00 [pmc-release]
AID - EC-21-0560.R1 [pii]
AID - EC-21-0560 [pii]
AID - 10.1530/EC-21-0560 [doi]
PST - epublish
SO  - Endocr Connect. 2022 Jan 31;11(1):e210560. doi: 10.1530/EC-21-0560.