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- W2000765304 abstract "Cystic fibrosis (CF) is one of the most frequent severe autosomal recessive disorders in the Caucasian population and more than 1,900 CFTR gene variations have already been reported to the Cystic Fibrosis Mutation database. Extensive analysis of the CFTR gene allows identification of disease-causing alleles to confirm the diagnosis of CF and CFTR-related disorders. Most of the time, mutations known to be pathogenic are identified but, in some cases, the identification of variants of unknown clinical significance (VUCS) complicates interpretation and, consequently, genetic counselling for patients and their families. In this issue, Raynal et al. (Hum Mutat 34:774–784, 2013) describe with an elegant approach the multi-criteria decision steps in a flowchart to classify CFTR VUCS identified in patients studied in a clinical setting. They have used a decision tree based on international guidelines (CMGS). The authors have also shown how they have improved performance of in silico predictions by using other splice prediction tools which are specifically suited to the assessment of splicing. They have confirmed the validity of their method by performing minigene studies for intronic and exonic variants selected for their potential impact on splicing. The strategy presented here is very useful for a diagnostic laboratory performing CFTR gene analyses that regularly deals with identification of new and VUCS variants, especially in emergency situations such as suspicion of CF in fetuses. Moreover, it may be helpful in the long run, to harmonize practices for the interpretation of VUCS following the requirements for quality assurance and accreditation of molecular diagnostic laboratories. Such a strategy may be adapted to other hereditary disorders." @default.
- W2000765304 created "2016-06-24" @default.
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- W2000765304 date "2013-04-11" @default.
- W2000765304 modified "2023-09-24" @default.
- W2000765304 title "Novel strategies for classifying splice-site variants of unknown clinical significance in<i>CFTR</i>" @default.
- W2000765304 doi "https://doi.org/10.1002/humu.22184" @default.
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