Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South africa

Rosendorff, Jennifer; Bernstein, R; Macdougall, Lorna G.; Jenkins, Trefor

doi:10.1002/ajmg.1320270408

Cited by 63 publications

(33 citation statements)

References 8 publications

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“…It is a rare disease with an incidence of 1 in 200 000-400 000 live births (Joenje and Patel, 2001), and a heterozygote frequency of around 1 in 250. However, it is more common in some populations, with carrier frequencies of about 1 in 90 reported in Ashkenazi Jews and the Afrikaans-speaking population of South Africa (Rosendorff et al, 1987;Verlander et al, 1995). At the cellular level, FA is considered to be a chromosomal fragility syndrome.…”

Section: The Fanconi Anaemia Syndromementioning

confidence: 99%

Fanconi anaemia genes and susceptibility to cancer

2006

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Fanconi anaemia (FA) is a rare recessive disorder associated with chromosomal fragility, aplastic anaemia, congenital abnormalities and a high risk of cancer, including acute myeloid leukaemia and squamous cell carcinomas. The identification of 11 different FA genes has revealed a complex web of interacting proteins that are involved in the recognition or repair of DNA interstrand crosslinks and perhaps other forms of DNA damage. Bi-allelic mutations in BRCA2 are associated with a rare and highly cancer-prone form of FA, and the DNA helicase BRIP1 (formerly BACH1) is mutated in FA group J. There is little convincing evidence that FA heterozygotes are at increased risk of cancer, but larger studies are needed to address the possibility of modest risk effects. Somatic inactivation of the FA pathway by mutation or epigenetic silencing has been observed in several different types of sporadic cancer, and this may have important implications for targeted chemotherapy. Inhibition of this pathway represents a possible route to sensitization of tumours to DNA crosslinking drugs such as cisplatin.

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Section: The Fanconi Anaemia Syndromementioning

confidence: 99%

Fanconi anaemia genes and susceptibility to cancer

2006

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“…3 FA is genetically heterogeneous, arising from mutations in 1 of at least 11 different genes (FANCA, FANCB,…”

Section: Introductionmentioning

confidence: 99%

A common Fanconi anemia mutation in black populations of sub-Saharan Africa

Morgan

Essop

Demuth

et al. 2005

Blood

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Fanconi anemia (FA) is a genetically heterogeneous chromosomal instability syndrome associated with multiple congenital abnormalities, aplastic anemia, and cancer. We report that a deletion mutation in the FANCG gene (c.637_643delTACCGCC) was present in 82% of FA patients in the black populations of Southern Africa. These patients originated from South Africa, Swaziland, Mozambique, and Malawi. The mutation was found on the same haplotype and was present in 1% of controls from the black South African population. These data indicate that the birth incidence of FA in this population is higher than 1 in 40 000, which is much higher than previously supposed, and suggest that the FANCG deletion is an ancient founder mutation in Bantu-speaking populations of sub-Saharan Africa.

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“…1980), Huntington's chorea (Hayden et al 1980), Fanconi anaemia (Rosendorff et al 1987), pseudoxanthoma elasticum (Torrington & Viljoen 1991), progressive familial heart block type I (Torrington et al 1986), lipoid proteinosis (Heyl, 1970) and sclerosteosis (Beighton et al 1977). Several studies have aimed to identify the actual founder ancestors who brought these disease-causing alleles to South Africa.…”

Section: Introductionmentioning

confidence: 99%

Deconstructing Jaco: Genetic Heritage of an Afrikaner

Greeff

2007

Annals of Human Genetics

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SummaryIt is often assumed that Afrikaners stem from a small number of Dutch immigrants. As a result they should be genetically homogeneous, show founder effects and be rather inbred. By disentangling my own South African pedigree, that is on average 12 generations deep, I try to quantify the genetic heritage of an Afrikaner. As much as 6% of my genes have been contributed by slaves from Africa, Madagascar and India, and a woman from China. This figure compares well to other genetic and genealogical estimates. Seventy three percent of my lineages coalesce into common founders, and I am related in excess of 10 times to 20 founder ancestors (30 times to Willem Schalk van der Merwe). Significant founder effects are thus possible. The overrepresentation of certain founder ancestors is in part explained by the fact that they had more children. This is remarkable given that they lived more than 300 years (or 12 generations) ago. DECONSTRUCT, a new program for pedigree analysis, identified 125 common ancestors in my pedigree. However, these common ancestors are so distant from myself, paths of between 16 and 25 steps in length, that my inbreeding coefficient is not unusually high (f ≈ 0.0019).

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Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South africa

Cited by 63 publications

References 8 publications

Fanconi anaemia genes and susceptibility to cancer

Fanconi anaemia genes and susceptibility to cancer

A common Fanconi anemia mutation in black populations of sub-Saharan Africa

Deconstructing Jaco: Genetic Heritage of an Afrikaner

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