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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation
Genetics in Medicine, Volume 16, No. 5, Year 2014
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Description
Purpose:Fanconi anemia is a genotypically and phenotypically heterogeneous condition, characterized microscopically by chromosomal instability and breakage. Affected individuals manifest growth restriction and congenital physical abnormalities; most progress to hematological disease including bone marrow aplasia. Black South African Fanconi anemia patients share a common causative founder mutation in the Fanconi G gene in 80% of cases (637-643delTACCGCC). The aim of this study was to investigate the genotype-physical phenotype correlation in a cohort of individuals homozygous for this mutation.Methods:Thirty-five black patients were recruited from tertiary level hematology/oncology clinics in South Africa. Participants were subjected to a comprehensive clinical examination, documenting growth, congenital anomalies, and phenotypic variability.Results:Descriptive statistical analysis showed significant growth abnormalities in many patients and a high frequency (97%) of skin pigmentary anomalies. Subtle anomalies of the eyes, ears, and hands occurred frequently (≥70%). Apart from malformations of the kidney (in 37%) and gastrointestinal tract (in 8.5%), congenital anomalies of other systems including the cardiovascular and central nervous systems, genitalia, and vertebrae were infrequent (<5%).Conclusion:The diagnosis of Fanconi anemia in black South African patients before the onset of hematological symptoms remains a clinical challenge, with the physical phenotype unlikely to be recognized by those without dysmorphology expertise.Genet Med 16 5, 400-406. © American College of Medical Genetics and Genomics.
Authors & Co-Authors
Feben, Candice
South Africa, Johannesburg
National Health Laboratory Service
Kromberg, Jennifer G.R.
South Africa, Johannesburg
University of the Witwatersrand
Wainwright, Rosalind D.
South Africa, Johannesburg
Chris Hani Baragwanath Hospital
Stones, David Kenneth
South Africa, Bloemfontein
Universitas Private Hospital
Sutton, Christopher
South Africa, Sovenga
University of Limpopo
Poole, Janet Elizabeth
South Africa, Johannesburg
Charlotte Maxeke Johannesburg Academic Hospital
Haw, Tabitha
South Africa, Johannesburg
National Health Laboratory Service
Krause, Amanda
South Africa, Johannesburg
National Health Laboratory Service
Statistics
Citations: 10
Authors: 8
Affiliations: 6
Identifiers
Doi:
10.1038/gim.2013.159
e-ISSN:
15300366
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases
Study Design
Cross Sectional Study
Cohort Study
Study Approach
Quantitative
Study Locations
South Africa