Fanconi Anaemia in South African Patients with Afrikaner Ancestry
Background. Fanconi anaemia (FA) is a rare genetic disorder of impaired DNA repair that results in physical and haematological consequences in affected individuals. In South Africa (SA), individuals with Afrikaner ancestry are at an increased risk of inheriting disease-causing FA mutations, owing to...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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South African Medical Association
2017-10-01
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| Series: | South African Journal of Child Health |
| Online Access: | http://www.sajch.org.za/index.php/SAJCH/article/view/1385 |
| _version_ | 1797369518694072320 |
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| author | C Feben T Haw D Stones C Jacobs C Sutton J Kromberg A Krause |
| author_facet | C Feben T Haw D Stones C Jacobs C Sutton J Kromberg A Krause |
| author_sort | C Feben |
| collection | DOAJ |
| description | Background. Fanconi anaemia (FA) is a rare genetic disorder of impaired DNA repair that results in physical and haematological consequences in affected individuals. In South Africa (SA), individuals with Afrikaner ancestry are at an increased risk of inheriting disease-causing FA mutations, owing to the three common FANCA (FA, complementation group A) founder mutations present in this population subgroup.
Objectives. To describe the physical phenotype of SA patients with FANCA mutations for the purpose of recommending appropriate care for affected individuals.
Methods. A structured clinical examination and file-based review were used to evaluate the physical phenotype of 7 patients with compound heterozygous and homozygous FANCA founder mutations, and 1 patient with confirmed FANCA complementation analysis. Descriptive statistical analysis was used to determine the frequency of physical anomalies in Afrikaner patients and to compare the described phenotype to other FA cohorts, including a previously clinically characterised black SA FA cohort.
Results. An earlier age of diagnosis of FA in Afrikaner patients, a high frequency of somatic anomalies and a higher-than-expected incidence of the VACTERL/H phenotype were noted.
Conclusions. Based on our findings, recommendations for the care of FA patients with Afrikaner ancestry are made, including renal ultrasound evaluation at diagnosis and hearing screening |
| first_indexed | 2024-03-08T17:47:56Z |
| format | Article |
| id | doaj.art-501965b0ae2345d88e441a6cc71cc4ae |
| institution | Directory Open Access Journal |
| issn | 1994-3032 1999-7671 |
| language | English |
| last_indexed | 2024-03-08T17:47:56Z |
| publishDate | 2017-10-01 |
| publisher | South African Medical Association |
| record_format | Article |
| series | South African Journal of Child Health |
| spelling | doaj.art-501965b0ae2345d88e441a6cc71cc4ae2024-01-02T09:43:14ZengSouth African Medical AssociationSouth African Journal of Child Health1994-30321999-76712017-10-0111314114510.7196/SAJCH.2017.v11i3.1312Fanconi Anaemia in South African Patients with Afrikaner AncestryC Feben0T Haw1D Stones2C Jacobs3C Sutton4J Kromberg5A Krause6Division of Human Genetics, National Health Laboratory Service, and Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South AfricaDivision of Human Genetics, National Health Laboratory Service, and Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South AfricaDepartment of Paediatrics, Universitas Hospital; and University of the Free State, Bloemfontein, South AfricaUnitas Hospital, Pretoria, South AfricaDepartment of Paediatrics, Polokwane Mankweng Hospital Complex, Polokwane and University of Limpopo, Polokwane, South AfricaDivision of Human Genetics, National Health Laboratory Service, and Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South AfricaDivision of Human Genetics, National Health Laboratory Service, and Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South AfricaBackground. Fanconi anaemia (FA) is a rare genetic disorder of impaired DNA repair that results in physical and haematological consequences in affected individuals. In South Africa (SA), individuals with Afrikaner ancestry are at an increased risk of inheriting disease-causing FA mutations, owing to the three common FANCA (FA, complementation group A) founder mutations present in this population subgroup. Objectives. To describe the physical phenotype of SA patients with FANCA mutations for the purpose of recommending appropriate care for affected individuals. Methods. A structured clinical examination and file-based review were used to evaluate the physical phenotype of 7 patients with compound heterozygous and homozygous FANCA founder mutations, and 1 patient with confirmed FANCA complementation analysis. Descriptive statistical analysis was used to determine the frequency of physical anomalies in Afrikaner patients and to compare the described phenotype to other FA cohorts, including a previously clinically characterised black SA FA cohort. Results. An earlier age of diagnosis of FA in Afrikaner patients, a high frequency of somatic anomalies and a higher-than-expected incidence of the VACTERL/H phenotype were noted. Conclusions. Based on our findings, recommendations for the care of FA patients with Afrikaner ancestry are made, including renal ultrasound evaluation at diagnosis and hearing screeninghttp://www.sajch.org.za/index.php/SAJCH/article/view/1385 |
| spellingShingle | C Feben T Haw D Stones C Jacobs C Sutton J Kromberg A Krause Fanconi Anaemia in South African Patients with Afrikaner Ancestry South African Journal of Child Health |
| title | Fanconi Anaemia in South African Patients with Afrikaner Ancestry |
| title_full | Fanconi Anaemia in South African Patients with Afrikaner Ancestry |
| title_fullStr | Fanconi Anaemia in South African Patients with Afrikaner Ancestry |
| title_full_unstemmed | Fanconi Anaemia in South African Patients with Afrikaner Ancestry |
| title_short | Fanconi Anaemia in South African Patients with Afrikaner Ancestry |
| title_sort | fanconi anaemia in south african patients with afrikaner ancestry |
| url | http://www.sajch.org.za/index.php/SAJCH/article/view/1385 |
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