First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele

This study provides what seems to be the first description of the duplication of the whole CFTR gene in a newborn infant who s howed elevated immunoreactive trypsinogen (IRT) and also carried R74W and V855I variants.

Source: Journal of Cystic Fibrosis - February 5, 2024 Category: Respiratory Medicine Authors: Anna Diana, Angela Maria Polizzi, Annunziata De Luisi, Maria Giuseppina Pantaleo, Giuseppina Leonetti, Simonetta Simonetti, Nenad Bukvic, Matteo Iacoviello, Roberta Bucci, Mattia Gentile, Nicoletta Resta Tags: Short Communication Source Type: research