Multiple endocrine neoplasia type 2A in a black South African family
Hopley, M.; Huddle, K.R.
South African Medical Journal 87(3 Suppl): 371-372
1997
ISSN/ISBN: 0256-9574 PMID: 9137358 Document Number: 475152
The genetic abnormality of multiple endocrine neoplasia type 2A (MEN 2A) has recently been elucidated. Over 95% of families with MEN 2A have an identifiable mutation of the RET proto-oncogene on chromosome 10. This report describes a black South African woman with MEN 2A in whom a mutation of the RET proto-oncogene was identified. Current genetic knowledge and recent changes in clinical practice are presented, with specific reference to the other family members found to be carrying the mutant RET gene.