Question

How many mutations and other sequence variants have been reported in dbSNP for human CFTR?

[please be detailed]

Answer 1

California uses methods to screen newborns for cystic fibrosis (CF) that includes gene scanning and DNA sequencing after only one California-40 cystic fibrosis transmembrane conductance regulator (CFTR) panel mutation has been found in hypertrypsinogenemic specimens. Newborns found by sequencing to have one or more additional mutations (including novel variants) in the CFTR gene are systematically followed, assessment of the pathogenic potential of these variants . During the first 3 years of screening, 55 novel variants were identified. Six of these novel variants were discovered in five screen-negative participants and three were identified in multiple unrelated participants.