Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

European Journal of Human Genetics

Volumn 18, Issue 10, 2010, Pages 1166-1169

  De Becdelièvre, Alix ^a   Costa, Catherine ^a   Lefloch, Annick ^a   Legendre, Marie ^a   Jouannic, Jean Marie ^b   Vigneron, Jacqueline ^c   Bresson, Jean Luc ^d   Gobin, Stéphanie ^e   Martin, Josiane ^a   Goossens, Michel ^a   Girodon, Emmanuelle ^a  

^a INSERM   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c Maternite Regionale Universitaire   (France)

^d HÔPITAL SAINT JACQUES   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

CFTR; cystic fibrosis; deletions; fetal bowel anomalies; hyperechogenic bowel; rearrangements

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CLINICAL ARTICLE; CYSTIC FIBROSIS; FEMALE; FETUS; GALLBLADDER DISEASE; GENE DELETION; GENE REARRANGEMENT; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HUMAN; MALE; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ASSAY; TURKEY (REPUBLIC);

EID: 77957154655     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.80     Document Type: Article

References (28)

1. Penna L, Bower S: Hyperechogenic bowel in the second trimester fetus: a review. Prenat Diagn 2000; 20: 909-913.
2. Scotet V, De Braekeleer M, Audrezet MP et al: Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies. J Med Genet 2002; 39: 443-448.
3. Ghose I, Mason GC, Martinez D et al: Hyperechogenic fetal bowel: a prospective analysis of sixty consecutive cases. BJOG 2000; 107: 426-429.
4. Corteville JE, Gray DL, Langer JC: Bowel abnormalities in the fetus-correlation of prenatal ultrasonographic findings with outcome. Am J Obstet Gynecol 1996; 175: 724-729.
5. Slotnick RN, Abuhamad AZ: Prognostic implications of fetal echogenic bowel. Lancet 1996; 347: 85-87.
6. Muller F, Dommergues M, Simon-Bouy B et al: Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case. J Med Genet 1998; 35: 657-660.
7. Muller F, Simon-Bouy B, Girodon E, Monnier N, Malinge MC, Serre JL: Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases. Am J Med Genet 2002; 110: 109-115.
8. Farrell PM: The prevalence of cystic fibrosis in the European Union. J Cyst Fibros 2008; 7: 450-453.
9. Southern KW, Munck A, Pollitt R et al: A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007; 6: 57-65.
10. Welsh MJ, Smith AE: Cystic fibrosis. Sci Am 1995; 273: 52-59.
11. Dequeker E, Stuhrmann M, Morris MA 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.
12. Bobadilla JL, Macek Jr M, Fine JP, Farrell PM: Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575-606.
13. Niel F, Martin J, Dastot-Le Moal F et al: Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 2004; 41: e118.
14. Audrezet MP, Chen JM, Raguenes O et al: Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004; 23: 343-357.
15. Hantash FM, Milunsky A, Wang Z et al: A large deletion in the CFTR gene in CBAVD. Genet Med 2006; 8: 93-95.
16. Ferec C, Casals T, Chuzhanova N et al: Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006; 14: 567-576.
17. Tomaiuolo R, Sangiuolo F, Bombieri C et al: Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study. J Cyst Fibros 2008; 7: 347-351.
18. Brock DJ, Hayward C, Gosden C: Amniotic fluid GGTP in prenatal diagnosis of cystic fibrosis: a word of warning. Lancet 1983; 1: 1099.
19. Mulivor RA, Cook D, Muller F et al: Analysis of fetal intestinal enzymes in amniotic fluid for the prenatal diagnosis of cystic fibrosis. Am J Hum Genet 1987; 40: 131-146.
20. Fanen P, Ghanem N, Vidaud M et al: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992; 13: 770-776.
21. Costes B, Girodon E, Ghanem N et al: Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet 1995; 3: 285-293.
22. Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C: Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 2001; 108: 290-298.
23. Ratbi I, Legendre M, Niel F et al: Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod 2007; 22: 1285-1291.
24. Costes B, Girodon E, Vidaud D et al: Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3 kb (or CFTRdele19). Clin Chem 2000; 46: 1417-1420.
25. Quemener S, Chen JM, Chuzhanova N et al: Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Hum Mutat 31: 421-428.
26. Duchatel F, Muller F, Oury JF, Mennesson B, Boue J, Boue A: Prenatal diagnosis of cystic fibrosis: ultrasonography of the gallbladder at 17-19 weeks of gestation. Fetal Diagn Ther 1993; 8: 28-36.
27. Ochshorn Y, Rosner G, Barel D, Bronshtein M, Muller F, Yaron Y: Clinical evaluation of isolated nonvisualized fetal gallbladder. Prenat Diagn 2007; 27: 699-703.
28. Oca F, Dreux S, Gerard B et al: Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance. Clin Chem 2009; 55: 2214-2217.