Case Studies: Unusual phaeochromocytomas in African families: the importance of genetic testing

Krause, Amanda; Feben, Candice; Wyk, Chantel Van; Huddle, K. R. L.; Raal, FJ

doi:10.1080/22201009.2010.10872234

Cited by 3 publications

(4 citation statements)

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“…Of these, 8 were associated with VHL (4 of whom were a father, a son, and 2 daughters from the same family), 3 with NF1, and 4 more with MEN 2A syndrome (1 who was diagnosed solely on clinical grounds) [ 8-10 ]. Genetic mutational analysis was performed in just 3 of these cases: 2 with VHL (missense mutation [c. 256C>T] and missense mutation [c. 499C>T]) and 1 with MEN 2A (missense mutation [c.634 exon 11]) [ 9 , 11 ]. None of the cases included in these case series were associated with SDH mutations and to date there is just a single case report of a 23-year-old male from sub-Saharan Africa with an abdominal SDHB -associated extra-adrenal PGL reported in the literature; however, the specific mutation was not described [ 8 , 9 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

“…Genetic mutational analysis was performed in just 2 South African case studies of patients with PPGL. The first was in a patient with MEN type 2A and the second in 2 cases of VHL syndrome [ 11 ].…”

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confidence: 99%

“…The prevalence noted in this study is similar to that reported globally and serves to illustrate that many cases of heritable PPGL likely remain undetected in sub-Saharan Africa [ 13 , 14 ]. The paucity of reports from sub-Saharan Africa may be attributed to the limited health care resources and the lack of availability of genetic testing in the region [ 7-9 , 11 ]. The lack of PPGL data from patients of African ancestry also extends to SDH -associated PPGLs and to date there is just a single reported case of an SDHB -associated PPGL, confirmed by genetic mutational analysis, in a patient from Southern Africa [ 15 ].…”

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confidence: 99%

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SDHB-Associated Paraganglioma Syndrome in Africa—A Need for Greater Genetic Testing

Siddiqui

Seedat

Bulbulia

et al. 2021

Journal of the Endocrine Society

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A germline mutation is identified in almost 40% of Pheochromocytoma-Paraganglioma (PPGL) Syndromes. Genetic testing and counselling are essential for the management of index cases as well as pre-symptomatic identification and pre-emptive management of affected family members. Mutations in the genes encoding the mitochondrial enzyme succinate dehydrogenase (SDH) are well described in patients with hereditary PPGL. Amongst patients of African ancestry the prevalence, phenotype, germline mutation spectrum and penetrance of SDH mutations is poorly characterized. We describe a multifocal paraganglioma in a young African male with an underlying mis-sense SDHB mutation, with a history of three first-degree relatives who demised at young ages from suspected cardiovascular causes. The same SDHB mutation, Class V variant c.724C>A p.(Arg242Ser), was detected in one of his asymptomatic siblings. As there is limited data describing hereditary PPGL syndromes in Africa this report of an SDHB associated PPGL is a notable contribution to the literature in this growing field. Due to the noteworthy clinical implications of PPGL mutations, it highlights the existing need for broader genetic screening amongst African patients with PPGL despite the limited healthcare resources available in this region.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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SDHB-Associated Paraganglioma Syndrome in Africa—A Need for Greater Genetic Testing

Siddiqui

Seedat

Bulbulia

et al. 2021

Journal of the Endocrine Society

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“…There are isolated reports of mutations in other inherited cancer predisposition genes. For example, there are case reports of two African patients with von Hippel-Lindau syndrome and documented family-specific mutations (66), and two families with Li-Fraumeni syndrome and documented p53 mutations have been described (91). The recurrent mutations causing multiple endocrine neoplasia type 2 that occur worldwide appear to also be present in Africa (50, 109; A. Krause, unpublished data).…”

Section: Familial Cancer Syndromesmentioning

confidence: 99%

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations

Krause

Seymour

Ramsay

2018

Annu. Rev. Genom. Hum. Genet.

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This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder mutations have been identified for oculocutaneous albinism, cystic fibrosis, Fanconi anemia, and Gaucher disease. Although there are few studies from Africa, some of the mutations traverse populations across the continent, and they are almost all different from the common mutations observed in non-African populations. Myotonic dystrophy is curiously absent among Africans, and nonsyndromic deafness does not arise from mutations in GJB2 and GJB7. Locus heterogeneity is present for Huntington disease, with two common triplet expansion loci in Africa, HTT and JPH3. These findings have important clinical consequences for diagnosis, treatment, and genetic counseling in affected families. We currently have just a glimpse of the molecular etiology of monogenic diseases in sub-Saharan Africa, a proverbial "ears of the hippo" situation.

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Neurofibromatosis and its Management in Nigeria: Important Neurologic and Neuro-ophthalmologic Considerations

Ogun

2021

Niger J Ophthalmol

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Case Studies: Unusual phaeochromocytomas in African families: the importance of genetic testing

Cited by 3 publications

References 2 publications

SDHB-Associated Paraganglioma Syndrome in Africa—A Need for Greater Genetic Testing

SDHB-Associated Paraganglioma Syndrome in Africa—A Need for Greater Genetic Testing

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations

Neurofibromatosis and its Management in Nigeria: Important Neurologic and Neuro-ophthalmologic Considerations

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