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Non-classic cystic fibrosis associated with D1152H CFTR mutation.
Clin Genet. 2010 Apr; 77(4):355-64.CG

Abstract

BACKGROUND

Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation.

METHODS

Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared with those of pancreatic insufficient (PI) and pancreatic sufficient (PS) cystic fibrosis (CF) subjects in the Registry (CF cohort).

RESULTS

Forty-two subjects with D1152H alleles were identified. Features leading to diagnosis included chronic sinopulmonary disease (n = 25), congenital absence of the vas deferens (n = 11), systematic neonatal screening (n = 4), and genetic counseling (n = 2). Median age at diagnosis was 33 [interquartile range (IQR, 24-41)] years in D1152H subjects. Median sweat chloride concentrations were 43.5 (39-63) mmol/l in D1152H subjects and were markedly lower than in PI and PS CF subjects (p < 0.05). Bronchiectasis was present in 67% of D1152H subjects, but Pseudomonas aeruginosa colonization and pancreatic insufficiency were present in <30% of subjects. Estimated rates of decline in forced expiratory volume in 1 s (FEV(1)) were lower in D1152H subjects vs PI CF subjects (p < 0.05). None of the D1152H subjects identified since 1999 had died or required lung transplantation.

CONCLUSIONS

When present in trans with a CF-causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival.

Authors+Show Affiliations

Hôpital Cochin, APHP, Université Paris Descartes, Paris, France. pierre-regis.burgel@cch.aphp.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19843100

Citation

Burgel, P-R, et al. "Non-classic Cystic Fibrosis Associated With D1152H CFTR Mutation." Clinical Genetics, vol. 77, no. 4, 2010, pp. 355-64.
Burgel PR, Fajac I, Hubert D, et al. Non-classic cystic fibrosis associated with D1152H CFTR mutation. Clin Genet. 2010;77(4):355-64.
Burgel, P. R., Fajac, I., Hubert, D., Grenet, D., Stremler, N., Roussey, M., Siret, D., Languepin, J., Mely, L., Fanton, A., Labbé, A., Domblides, P., Vic, P., Dagorne, M., Reynaud-Gaubert, M., Counil, F., Varaigne, F., Bienvenu, T., Bellis, G., & Dusser, D. (2010). Non-classic cystic fibrosis associated with D1152H CFTR mutation. Clinical Genetics, 77(4), 355-64. https://doi.org/10.1111/j.1399-0004.2009.01294.x
Burgel PR, et al. Non-classic Cystic Fibrosis Associated With D1152H CFTR Mutation. Clin Genet. 2010;77(4):355-64. PubMed PMID: 19843100.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Non-classic cystic fibrosis associated with D1152H CFTR mutation. AU - Burgel,P-R, AU - Fajac,I, AU - Hubert,D, AU - Grenet,D, AU - Stremler,N, AU - Roussey,M, AU - Siret,D, AU - Languepin,J, AU - Mely,L, AU - Fanton,A, AU - Labbé,A, AU - Domblides,P, AU - Vic,P, AU - Dagorne,M, AU - Reynaud-Gaubert,M, AU - Counil,F, AU - Varaigne,F, AU - Bienvenu,T, AU - Bellis,G, AU - Dusser,D, Y1 - 2009/10/15/ PY - 2009/10/22/entrez PY - 2009/10/22/pubmed PY - 2010/9/15/medline SP - 355 EP - 64 JF - Clinical genetics JO - Clin. Genet. VL - 77 IS - 4 N2 - BACKGROUND: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. METHODS: Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared with those of pancreatic insufficient (PI) and pancreatic sufficient (PS) cystic fibrosis (CF) subjects in the Registry (CF cohort). RESULTS: Forty-two subjects with D1152H alleles were identified. Features leading to diagnosis included chronic sinopulmonary disease (n = 25), congenital absence of the vas deferens (n = 11), systematic neonatal screening (n = 4), and genetic counseling (n = 2). Median age at diagnosis was 33 [interquartile range (IQR, 24-41)] years in D1152H subjects. Median sweat chloride concentrations were 43.5 (39-63) mmol/l in D1152H subjects and were markedly lower than in PI and PS CF subjects (p < 0.05). Bronchiectasis was present in 67% of D1152H subjects, but Pseudomonas aeruginosa colonization and pancreatic insufficiency were present in <30% of subjects. Estimated rates of decline in forced expiratory volume in 1 s (FEV(1)) were lower in D1152H subjects vs PI CF subjects (p < 0.05). None of the D1152H subjects identified since 1999 had died or required lung transplantation. CONCLUSIONS: When present in trans with a CF-causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/19843100/Non_classic_cystic_fibrosis_associated_with_D1152H_CFTR_mutation_ L2 - https://doi.org/10.1111/j.1399-0004.2009.01294.x DB - PRIME DP - Unbound Medicine ER -