title: Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.
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.
authors.affiliation: Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland. aleksandra.norek@gmail.com
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Norek
authors.forename: Marta
authors.initials: M
authors.lastname: Stremska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Sobczyńska-Tomaszewska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wertheim-Tysarowska
authors.forename: Hanna
authors.initials: H
authors.lastname: Dmeńska
authors.forename: Marta
authors.initials: M
authors.lastname: Jurek
mesh_terms: D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005500:Follow-Up Studies; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA