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Teuntje Poortvliet

Teuntje Poortvliet

MSc student

Learning from mistakes: Deciphering the residual function of mutated FANCC in patients with Fanconi anemia

Phone 31 88 97 25 186

Fanconi anaemia is a recessive genetic disorder mainly characterised by progressive bone marrow failure and a predisposition to cancer, frequently coupled with congenital abnormalities. The disorder can be caused by biallelic germline mutations in different genes of the Fanconi anaemia DNA repair pathway. The severity of disease in FA patients is variable and depends on the specific type of causative mutation. Many mutations leading to FA do not fully inactivate the affected protein but result in mutant proteins that still have some, often unknown, residual function. The goal of my project is to determine the residual functions of mutated FANCC, the most common cause of FA in the Netherlands. Identifying these residual function and/or missing functions will help to determine the roles of different mutations in causing FA.