{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T06:03:51Z","timestamp":1789538631977,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,10,15]],"date-time":"2009-10-15T00:00:00Z","timestamp":1255564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:p>Burgel P\u2010R, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labb\u00e9 A, Domblides P, Vic P, Dagorne M, Reynaud\u2010Gaubert M, Counil F, Varaigne F, Bienvenu T, Bellis G, Dusser D. Non\u2010classic cystic fibrosis associated with D1152H <jats:italic>CFTR<\/jats:italic> mutation.<\/jats:p><jats:p>Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (<jats:italic>CFTR<\/jats:italic>) mutation.<\/jats:p><jats:p>Methods: Subjects with a D1152H allele in <jats:italic>trans<\/jats:italic> with another <jats:italic>CFTR<\/jats:italic> 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).<\/jats:p><jats:p>Results: Forty\u2010two subjects with D1152H alleles were identified. Features leading to diagnosis included chronic sinopulmonary disease (<jats:italic>n<\/jats:italic> = 25), congenital absence of the vas deferens (<jats:italic>n<\/jats:italic> = 11), systematic neonatal screening (<jats:italic>n<\/jats:italic> = 4), and genetic counseling (<jats:italic>n<\/jats:italic> = 2). Median age at diagnosis was 33 [interquartile range (IQR, 24\u201341)] years in D1152H subjects. Median sweat chloride concentrations were 43.5 (39\u201363) mmol\/l in D1152H subjects and were markedly lower than in PI and PS CF subjects (p &lt; 0.05). Bronchiectasis was present in 67% of D1152H subjects, but <jats:italic>Pseudomonas aeruginosa<\/jats:italic> colonization and pancreatic insufficiency were present in &lt;30% of subjects. Estimated rates of decline in forced expiratory volume in 1 s (FEV<jats:sub>1<\/jats:sub>) were lower in D1152H subjects <jats:italic>vs<\/jats:italic> PI CF subjects (p &lt; 0.05). None of the D1152H subjects identified since 1999 had died or required lung transplantation.<\/jats:p><jats:p>Conclusions: When present in <jats:italic>trans<\/jats:italic> with a CF\u2010causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01294.x","type":"journal-article","created":{"date-parts":[[2009,10,15]],"date-time":"2009-10-15T09:57:05Z","timestamp":1255600625000},"page":"355-364","source":"Crossref","is-referenced-by-count":35,"title":["Non\u2010classic cystic fibrosis associated with D1152H <i>CFTR<\/i> 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