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

N V Morgan; F Essop; I Demuth; T de Ravel; S Jansen; M Tischkowitz; C M Lewis; L Wainwright; J Poole; H Joenje; M Digweed; A Krause; C G Mathew

doi:10.1182/blood-2004-10-3968

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

N V Morgan, F Essop, I Demuth, T de Ravel, S Jansen, M Tischkowitz, C M Lewis, L Wainwright, J Poole, H Joenje, M Digweed, A Krause, C G Mathew

Medical & Molecular Genetics

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Abstract

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. Diagnostic screening is now possible by means of a simple DNA test.

Original language	English
Pages (from-to)	3542 - 3544
Number of pages	3
Journal	Blood
Volume	105
Issue number	9
DOIs	https://doi.org/10.1182/blood-2004-10-3968
Publication status	Published - 1 May 2005

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title = "A common Fanconi anemia mutation in black populations of sub-Saharan Africa",

abstract = "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. Diagnostic screening is now possible by means of a simple DNA test.",

author = "Morgan, {N V} and F Essop and I Demuth and {de Ravel}, T and S Jansen and M Tischkowitz and Lewis, {C M} and L Wainwright and J Poole and H Joenje and M Digweed and A Krause and Mathew, {C G}",

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doi = "10.1182/blood-2004-10-3968",

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T1 - A common Fanconi anemia mutation in black populations of sub-Saharan Africa

AU - Morgan, N V

AU - Essop, F

AU - Demuth, I

AU - de Ravel, T

AU - Jansen, S

AU - Tischkowitz, M

AU - Lewis, C M

AU - Wainwright, L

AU - Poole, J

AU - Joenje, H

AU - Digweed, M

AU - Krause, A

AU - Mathew, C G

PY - 2005/5/1

Y1 - 2005/5/1

N2 - 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. Diagnostic screening is now possible by means of a simple DNA test.

AB - 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. Diagnostic screening is now possible by means of a simple DNA test.

U2 - 10.1182/blood-2004-10-3968

DO - 10.1182/blood-2004-10-3968

M3 - Article

SN - 1528-0020

VL - 105

SP - 3542

EP - 3544

JO - Blood

JF - Blood

IS - 9

ER -

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

Abstract

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