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

Neil V. Morgan; Fahmida Essop; Ilja Demuth; Thomy De Ravel; Stander Jansen; Marc Tischkowitz; Cathryn M. Lewis; Linda Wainwright; Janet Poole; Hans Joenje; Martin Digweed; Amanda Krause; Christopher G. Mathew

doi:10.1182/blood-2004-10-3968

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

Neil V. Morgan, Fahmida Essop, Ilja Demuth, Thomy De Ravel, Stander Jansen, Marc Tischkowitz, Cathryn M. Lewis, Linda Wainwright, Janet Poole, Hans Joenje, Martin Digweed, Amanda Krause, Christopher G. Mathew

Research output: Contribution to journal › Article › peer-review

46 Scopus citations

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 FANCGgene (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
State	Published - 1 May 2005
Externally published	Yes

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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 FANCGgene (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, {Neil V.} and Fahmida Essop and Ilja Demuth and {De Ravel}, Thomy and Stander Jansen and Marc Tischkowitz and Lewis, {Cathryn M.} and Linda Wainwright and Janet Poole and Hans Joenje and Martin Digweed and Amanda Krause and Mathew, {Christopher 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, Neil V.

AU - Essop, Fahmida

AU - Demuth, Ilja

AU - De Ravel, Thomy

AU - Jansen, Stander

AU - Tischkowitz, Marc

AU - Lewis, Cathryn M.

AU - Wainwright, Linda

AU - Poole, Janet

AU - Joenje, Hans

AU - Digweed, Martin

AU - Krause, Amanda

AU - Mathew, Christopher 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 FANCGgene (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 FANCGgene (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.

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EP - 3544

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JF - Blood

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ER -

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

Abstract

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