Clinical expression of patients with the D1152H CFTR mutation

Vito Terlizzi, Vincenzo Carnovale, Giuseppe Castaldo, Carlo Castellani, Natalia Cirilli, Carla Colombo, Fabiola Corti, Federico Cresta, Alice D'Adda, Marco Lucarelli, Vincenzina Lucidi, Annamaria Macchiaroli, Elisa Madarena, Rita Padoan, Serena Quattrucci, Donatello Salvatore, Federica Zarrilli, Valeria Raia

Research output: Contribution to journalArticle

Abstract

Background: Discordant results were reported on the clinical expression of subjects bearing the D1152H CFTR mutation, and also for the small number of cases reported so far. Methods: A retrospective review of clinical, genetic and biochemical data was performed from individuals homozygous or compound heterozygous for the D1152H mutation followed in 12 Italian cystic fibrosis (CF) centers. Results: 89 subjects carrying at least D1152H on one allele were identified. 7 homozygous patients had very mild clinical expression. Over half of the 74 subjects compound heterozygous for D1152H and a I-II-III class mutation had borderline or pathological sweat test and respiratory or gastrointestinal symptoms; one third had pulmonary bacteria colonization and 10/74 cases had complications (i.e. diabetes, allergic bronchopulmonary aspergillosis, and hemoptysis). However, their clinical expression was less severe as compared to a group of CF patients homozygous for the F508del mutation. Finally, 8 subjects compound heterozygous for D1152H and a IV-V class mutation showed very mild disease. Conclusions: The natural history of subjects bearing the D1152H mutation is widely heterogeneous and is influenced by the mutation in trans.

Original languageEnglish
Pages (from-to)447-452
Number of pages6
JournalJournal of Cystic Fibrosis
Volume14
Issue number4
DOIs
Publication statusPublished - Jul 1 2015

Fingerprint

Mutation
Cystic Fibrosis
Allergic Bronchopulmonary Aspergillosis
Hemoptysis
Sweat
Diabetes Complications
Natural History
Molecular Biology
Alleles
Bacteria
Lung

Keywords

  • Cystic fibrosis
  • D1152H
  • Genotype/phenotype
  • Neonatal screening

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Pediatrics, Perinatology, and Child Health

Cite this

Terlizzi, V., Carnovale, V., Castaldo, G., Castellani, C., Cirilli, N., Colombo, C., ... Raia, V. (2015). Clinical expression of patients with the D1152H CFTR mutation. Journal of Cystic Fibrosis, 14(4), 447-452. https://doi.org/10.1016/j.jcf.2014.12.012

Clinical expression of patients with the D1152H CFTR mutation. / Terlizzi, Vito; Carnovale, Vincenzo; Castaldo, Giuseppe; Castellani, Carlo; Cirilli, Natalia; Colombo, Carla; Corti, Fabiola; Cresta, Federico; D'Adda, Alice; Lucarelli, Marco; Lucidi, Vincenzina; Macchiaroli, Annamaria; Madarena, Elisa; Padoan, Rita; Quattrucci, Serena; Salvatore, Donatello; Zarrilli, Federica; Raia, Valeria.

In: Journal of Cystic Fibrosis, Vol. 14, No. 4, 01.07.2015, p. 447-452.

Research output: Contribution to journalArticle

Terlizzi, V, Carnovale, V, Castaldo, G, Castellani, C, Cirilli, N, Colombo, C, Corti, F, Cresta, F, D'Adda, A, Lucarelli, M, Lucidi, V, Macchiaroli, A, Madarena, E, Padoan, R, Quattrucci, S, Salvatore, D, Zarrilli, F & Raia, V 2015, 'Clinical expression of patients with the D1152H CFTR mutation', Journal of Cystic Fibrosis, vol. 14, no. 4, pp. 447-452. https://doi.org/10.1016/j.jcf.2014.12.012
Terlizzi V, Carnovale V, Castaldo G, Castellani C, Cirilli N, Colombo C et al. Clinical expression of patients with the D1152H CFTR mutation. Journal of Cystic Fibrosis. 2015 Jul 1;14(4):447-452. https://doi.org/10.1016/j.jcf.2014.12.012
Terlizzi, Vito ; Carnovale, Vincenzo ; Castaldo, Giuseppe ; Castellani, Carlo ; Cirilli, Natalia ; Colombo, Carla ; Corti, Fabiola ; Cresta, Federico ; D'Adda, Alice ; Lucarelli, Marco ; Lucidi, Vincenzina ; Macchiaroli, Annamaria ; Madarena, Elisa ; Padoan, Rita ; Quattrucci, Serena ; Salvatore, Donatello ; Zarrilli, Federica ; Raia, Valeria. / Clinical expression of patients with the D1152H CFTR mutation. In: Journal of Cystic Fibrosis. 2015 ; Vol. 14, No. 4. pp. 447-452.
@article{93e54a1e907941e89f82fcfc30e10c5b,
title = "Clinical expression of patients with the D1152H CFTR mutation",
abstract = "Background: Discordant results were reported on the clinical expression of subjects bearing the D1152H CFTR mutation, and also for the small number of cases reported so far. Methods: A retrospective review of clinical, genetic and biochemical data was performed from individuals homozygous or compound heterozygous for the D1152H mutation followed in 12 Italian cystic fibrosis (CF) centers. Results: 89 subjects carrying at least D1152H on one allele were identified. 7 homozygous patients had very mild clinical expression. Over half of the 74 subjects compound heterozygous for D1152H and a I-II-III class mutation had borderline or pathological sweat test and respiratory or gastrointestinal symptoms; one third had pulmonary bacteria colonization and 10/74 cases had complications (i.e. diabetes, allergic bronchopulmonary aspergillosis, and hemoptysis). However, their clinical expression was less severe as compared to a group of CF patients homozygous for the F508del mutation. Finally, 8 subjects compound heterozygous for D1152H and a IV-V class mutation showed very mild disease. Conclusions: The natural history of subjects bearing the D1152H mutation is widely heterogeneous and is influenced by the mutation in trans.",
keywords = "Cystic fibrosis, D1152H, Genotype/phenotype, Neonatal screening",
author = "Vito Terlizzi and Vincenzo Carnovale and Giuseppe Castaldo and Carlo Castellani and Natalia Cirilli and Carla Colombo and Fabiola Corti and Federico Cresta and Alice D'Adda and Marco Lucarelli and Vincenzina Lucidi and Annamaria Macchiaroli and Elisa Madarena and Rita Padoan and Serena Quattrucci and Donatello Salvatore and Federica Zarrilli and Valeria Raia",
year = "2015",
month = "7",
day = "1",
doi = "10.1016/j.jcf.2014.12.012",
language = "English",
volume = "14",
pages = "447--452",
journal = "Journal of Cystic Fibrosis",
issn = "1569-1993",
publisher = "Elsevier",
number = "4",

}

TY - JOUR

T1 - Clinical expression of patients with the D1152H CFTR mutation

AU - Terlizzi, Vito

AU - Carnovale, Vincenzo

AU - Castaldo, Giuseppe

AU - Castellani, Carlo

AU - Cirilli, Natalia

AU - Colombo, Carla

AU - Corti, Fabiola

AU - Cresta, Federico

AU - D'Adda, Alice

AU - Lucarelli, Marco

AU - Lucidi, Vincenzina

AU - Macchiaroli, Annamaria

AU - Madarena, Elisa

AU - Padoan, Rita

AU - Quattrucci, Serena

AU - Salvatore, Donatello

AU - Zarrilli, Federica

AU - Raia, Valeria

PY - 2015/7/1

Y1 - 2015/7/1

N2 - Background: Discordant results were reported on the clinical expression of subjects bearing the D1152H CFTR mutation, and also for the small number of cases reported so far. Methods: A retrospective review of clinical, genetic and biochemical data was performed from individuals homozygous or compound heterozygous for the D1152H mutation followed in 12 Italian cystic fibrosis (CF) centers. Results: 89 subjects carrying at least D1152H on one allele were identified. 7 homozygous patients had very mild clinical expression. Over half of the 74 subjects compound heterozygous for D1152H and a I-II-III class mutation had borderline or pathological sweat test and respiratory or gastrointestinal symptoms; one third had pulmonary bacteria colonization and 10/74 cases had complications (i.e. diabetes, allergic bronchopulmonary aspergillosis, and hemoptysis). However, their clinical expression was less severe as compared to a group of CF patients homozygous for the F508del mutation. Finally, 8 subjects compound heterozygous for D1152H and a IV-V class mutation showed very mild disease. Conclusions: The natural history of subjects bearing the D1152H mutation is widely heterogeneous and is influenced by the mutation in trans.

AB - Background: Discordant results were reported on the clinical expression of subjects bearing the D1152H CFTR mutation, and also for the small number of cases reported so far. Methods: A retrospective review of clinical, genetic and biochemical data was performed from individuals homozygous or compound heterozygous for the D1152H mutation followed in 12 Italian cystic fibrosis (CF) centers. Results: 89 subjects carrying at least D1152H on one allele were identified. 7 homozygous patients had very mild clinical expression. Over half of the 74 subjects compound heterozygous for D1152H and a I-II-III class mutation had borderline or pathological sweat test and respiratory or gastrointestinal symptoms; one third had pulmonary bacteria colonization and 10/74 cases had complications (i.e. diabetes, allergic bronchopulmonary aspergillosis, and hemoptysis). However, their clinical expression was less severe as compared to a group of CF patients homozygous for the F508del mutation. Finally, 8 subjects compound heterozygous for D1152H and a IV-V class mutation showed very mild disease. Conclusions: The natural history of subjects bearing the D1152H mutation is widely heterogeneous and is influenced by the mutation in trans.

KW - Cystic fibrosis

KW - D1152H

KW - Genotype/phenotype

KW - Neonatal screening

UR - http://www.scopus.com/inward/record.url?scp=84937641488&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84937641488&partnerID=8YFLogxK

U2 - 10.1016/j.jcf.2014.12.012

DO - 10.1016/j.jcf.2014.12.012

M3 - Article

C2 - 25583415

AN - SCOPUS:84937641488

VL - 14

SP - 447

EP - 452

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

SN - 1569-1993

IS - 4

ER -