A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Journal of Cystic Fibrosis

Volumn 10, Issue 6, 2011, Pages 479-482

  Costa, Catherine ^a,b   Pruliere Escabasse, Virginie ^a,b,c   de Becdelievre, Alix ^a,b,c   Gameiro, Christine ^a   Golmard, Lisa ^a,b,c   Guittard, Caroline ^d   Bassinet, Laurence ^e   Bienvenu, Thierry ^f   Georges, Marie Des ^d   Epaud, Ralph ^e   Bieth, Eric ^g   Giurgea, Irina ^a,b,c   Aissat, Abdel ^b,c   Hinzpeter, Alexandre ^b,c   Costes, Bruno ^b,c   Fanen, Pascale ^a,b,c   Goossens, Michel ^a,b,c   Claustres, Mireille ^d   Coste, André ^a,b,c   Girodon, Emmanuelle ^a,b  

^a HENRI MONDOR HOSPITAL   (France)

^b INSERM U955   (France)

^c FACULTÉ DE MÉDECINE   (France)

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

^e CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^f Institut Cochin   (France)

^g CHU PURPAN   (France)

Author keywords

1002 1113_1110delGAAT; C.870 1113_1110delGAAT; CFTR; CFTR mRNA; Cystic fibrosis

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL PRACTICE; CYSTIC FIBROSIS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; SCHOOL CHILD; SCREENING TEST; TRANS SPLICING;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; FEMALE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MIDDLE AGED; MUTATION; RNA, MESSENGER; YOUNG ADULT;

EID: 81455131699     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2011.06.011     Document Type: Article

References (9)

1. Castellani C., Cuppens H., Macek M., Cassiman J., Kerem E., Durie P., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008, 7:179-196.
2. Dequeker E., Stuhrmann M., Morris M.A., Casals T., Castellani C., Claustres M., et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet 2009, 17:51-65.
3. Chillon M., Dörk T., Casals T., Gimenez J., Fonknechten N., Will K., et al. A novel donor splice site in intron 11 of the CFTR gene created by mutation 1811+1.6kbA->G produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am J Hum Genet 1995, 56:623-629.
4. Highsmith W.E., Burch L.H., Boat T.E., Spock A., Gorvoy J., Quittel L., et al. A novel cystic fibrosis gene mutation is common in patients with normal sweat chloride concentrations. N Engl J Med 1994, 331:974-980.
5. Costa C., Prulière Escabasse V., Bassinet L., Golmard L., Gameiro C., de Becdelièvre A., et al. A new cryptic CFTR exon in mild CF. European Conference on Cystic Fibrosis 2009, Vol. 8:S2. Elsevier, Brest, supp 2. J.C. Fibros (Ed.).
6. Faà V., Incani F., Meloni A., Corda D., Masala M., Baffico A., et al. Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Biol Chem 2009, 284:30024-30031.
7. Niel F., Martin J., Dastot-Le Moal F., Costes B., Boissier B., Delattre V., et al. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 2004, 41(11):e118.
8. Farrell P.M., Rosenstein B.J., White T.B., Accurso F.J., Castellani C., Cutting G.R., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008, 153:S4-S14.
9. Faa' V., Coiana A., Incani F., Costantino L., Cao A., Rosatelli M. A synonymous mutation in the CFTR gene causes aberrant splicing in an Italian patient affected by a mild form of cystic fibrosis. J Mol Diagn 2010, 12:380-383.