The c.1364C>A (p.A455E) Mutation in the Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform

Cystic fibrosis (CF) is one of the most common recessive conditions among whites, with an estimated carrier frequency of 1 in 25 in the United States. Population-based CF carrier screening was implemented in the United States in 2001. The number of mutations screened by each laboratory may vary; however, the 23 most common CF mutations recommended for screening by the American College of Medical Genetics and American College of Obstetricians and Gynecologists are included in all platforms. The c.1364C>A (p.A455E) mutation located in exon 10 of the CFTR gene is one of the 23 mutations.

Source: Journal of Molecular Diagnostics - May 5, 2015 Category: Pathology Authors: Kristin K. Deeb, James D. Metcalf, Kaitlin M. Sesock, Junqing Shen, Christine A. Wensel, Larisa I. Rippel, Michelle Smith, Mark S. Chapman, Shulin Zhang Tags: Regular Article Source Type: research