Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype

Aleksandra Norek; Marta Stremska; Agnieszka Sobczyńska-Tomaszewska; Katarzyna Wertheim-Tysarowska; Hanna Dmeńska; Marta Jurek

doi:10.1016/j.jpeds.2011.04.022

Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype

J Pediatr. 2011 Aug;159(2):343-6.e1. doi: 10.1016/j.jpeds.2011.04.022. Epub 2011 Jun 12.

Authors

Aleksandra Norek¹, Marta Stremska, Agnieszka Sobczyńska-Tomaszewska, Katarzyna Wertheim-Tysarowska, Hanna Dmeńska, Marta Jurek

Affiliation

¹ Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland. aleksandra.norek@gmail.com

PMID: 21663921
DOI: 10.1016/j.jpeds.2011.04.022

Abstract

We identified c.1521_1523delCTT and c.1679+94_2619+986del8118 in trans in a 6-year-old boy with a severe cystic fibrosis phenotype. The first deletion was inherited maternally, but the latter had arisen de novo.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Child
Cystic Fibrosis / diagnosis
Cystic Fibrosis / genetics*
Cystic Fibrosis / metabolism
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
DNA / genetics*
Diagnosis, Differential
Disease Progression
Follow-Up Studies
Gene Deletion*
Genetic Predisposition to Disease
Humans
Male
Mutation*
Phenotype
Polymerase Chain Reaction

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator
DNA