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Mutations in Cystic Fibrosis
- Question
- How many mutations in CFTR in the CF gene are known so far ?
- Answer
- Mutations in CFTR gene give rise to CF. At present 1722 mutations are registered in the CFTR mutation database. About 1500 mutations are what we call ‘disease causing’. The other mutations are ‘neutral DNA variants’. Only functional studies can prove whether a specific mutation is disease causing or a neutral variant. This is a very time consuming process and that is why for many mutations it hasn’t happened yet. That is also why we can only ‘estimate’ that the number of disease causing mutation is around 1500. More information on the CF-gene you be found in the sections on ‘carriers’, ‘inheritance’ and ‘cause’.
Kind regards
H. Cuppens
- 01.12.2011
