Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B. Redman, Weimin Sun, Charles M. Strom
2009 Journal of Molecular Diagnostics  
Patients develop cystic fibrosis because of a variety of homozygous recessive mutations , including single nucleotide polymorphisms , insertions , and deletions, in the cystic fibrosis transmembrane regulator (CFTR) gene , or because of compound heterozygosity for two mutations in the CFTR gene. A false determination of homozygosity for a particular CFTR mutation could negatively affect both carrier screens for a patient's family as well as researchers' ability to study the physiological
more » ... tions of a particular mutation. We argued previously that homozygosity for rare or novel mutations in the CFTR gene could result from a mutation on one allele and the presence of a large deletion encompassing the same sequence region on the second allele. We present here a patient with classic cystic fibrosis who has a novel microdeletion in exon 7 on one allele and a large deletion encompassing exon 7 on the second allele. These data highlight the need to prevent misdiagnosis of homozygous mutations , which can lead to misinterpretation of mutation penetrance and its effects on protein function
doi:10.2353/jmoldx.2009.080117 pmid:19324987 pmcid:PMC2671343 fatcat:4eq33pol6rca3cvhvspo7zz32q