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Technical Briefs |
1
Service de Biochimie et de Génétique Moléculaire, INSERM U468, Hôpital Henri Mondor, AP-HP, 51 Avenue du Maréchal de Lattre de Tassigny, 94010 Créteil, France
2
Laboratoire de Génétique Moléculaire, Faculté des Sciences Pharmaceutiques et Biologiques, 4 Av de l’Observatoire, 75006 Paris, France
3
Service de Cytogénétique, Hôpital de Hautepierre, 67098 Strasbourg, France
a author for
correspondence: fax 33-1-4981-2842, e-mail girodon@im3.inserm.fr
Cystic fibrosis (CF; MIM No. 219700), the most common autosomal recessive disease in Caucasians (1), is caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR; MIM No. 602421) (2). The disease may be revealed by fetal bowel hyperechogenicity during routine ultrasonography in the second trimester of pregnancy, even when there is no family history of CF. However, fetal bowel hyperechogenicity is not specific for CF: when found at this stage of pregnancy, it corresponds to CF in 2–20% of cases (1)(3)(4)(5). Diagnostic investigations are based on screening for CF-causing mutations, fetal karyotyping, and screening for infections. Normal intestinal enzyme activities in amniotic fluid before 18 weeks of gestation reasonably rules out CF (6). However, most women are referred after this time, and it is necessary to screen for CF mutations in the parents and, if possible, fetus. To date, almost 900 mutations have been described throughout the CFTR gene, but very few deletions have been identified (7). Indeed, large deletions are not routinely screened for, given their rarity and the lack of suitable diagnostic tools. Conventional PCR-based methods usually detect deletions only when they are present in the homozygous state. As a result, the frequency of CFTR deletions is underestimated. Two relatively frequent large deletions have recently been described: 3120+1kbdel8.6kb was found in 13% of CF chromosomes in Israeli-Arab patients (8), and CFTRdele2,3 accounts for 1–6.4% of CF chromosomes in Slavic populations (9).
A couple was referred to our laboratory for fetal hyperechogenic bowel
diagnosed during a routine ultrasound scan at 20 weeks of gestation.
The couple, who were first cousins of Turkish extraction, had no family
history of CF. Diagnostic investigations were requested after genetic
counseling,
Acknowledgments
Footnotes
References
The following articles in journals at HighWire Press have cited this article:
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  I. Schrijver, K. Rappahahn, L. Pique, M. Kharrazi, and L.-J. Wong Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis J. Mol. Diagn., July 1, 2008; 10(4): 368 - 375. [Abstract] [Full Text] [PDF]
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F. M. Hantash, J. B. Redman, D. Goos, A. Kammesheidt, M. J. McGinniss, W. Sun, and C. M. Strom Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene J. Mol. Diagn., September 1, 2007; 9(4): 556 - 560. [Abstract] [Full Text] [PDF]
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 F Niel, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, and E Girodon Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis J. Med. Genet., November 1, 2004; 41(11): e118 - e118. [Full Text] [PDF]
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 C. Costa, J.-M. Jouannic, N. Stieltjes, J.-M. Costa, E. Girodon, and M. Goossens Quantitative Real-Time PCR Assay for Rapid Identification of Deletion Carriers in Hemophilia Clin. Chem., July 1, 2004; 50(7): 1269 - 1270. [Full Text] [PDF]
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V N Ninis, M O Kylync, M Kandemir, E Dathly, and A Tolun High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis J. Med. Genet., July 1, 2003; 40(7): 530 - 535. [Full Text] [PDF]
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