Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis

Genetics in Medicine

Volumn 13, Issue 2, 2011, Pages 166-172

  Strom, Charles M ^a   Crossley, Beryl ^a   Buller Buerkle, Arlene ^a   Jarvis, Michael ^a   Quan, Franklin ^a   Peng, Mei ^a   Muralidharan, Kasinathan ^a   Pratt, Victoria ^a   Redman, Joy B ^a   Sun, Weimin ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

carrier screening; cystic fibrosis; DNA sequencing; population; screening

Indexed keywords

TRYPSINOGEN;

ALLELE; ARTICLE; CYSTIC FIBROSIS; DISEASE CARRIER; FETUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; IMMUNOREACTIVITY; MAJOR CLINICAL STUDY; NEWBORN; POPULATION; PRENATAL CARE; PRENATAL DIAGNOSIS; SWEAT TEST; UNITED STATES;

CHILD; CONTINENTAL POPULATION GROUPS; CYSTIC FIBROSIS; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC TESTING; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MUTATION; PREVALENCE; UNITED STATES;

EID: 79951575618     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181fa24c4     Document Type: Article

References (31)

1. Cystic Fibrosis Foundation Web Page. Available at: http://www.cff.org/ AboutCF/Testing/GeneticCarrierTest/. Accessed May 21, 2010.
2. Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008;153:S4-S14. (Pubitemid 351970581)
3. Rowe, SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005;352: 1992-2001. (Pubitemid 40638370)
4. Parad RB, Comeau AM. Diagnostic dilemmas resulting from the immuno-reactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr 2005;147:S78-S82. (Pubitemid 41400264)
5. Castellani C, Picci L, Scarpa M, et al. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers. Am J Med Genet A 2005;135:142-144. (Pubitemid 40769963)
6. Parad RB, Comeau AM, Dorkin HL, et al. Sweat testing infants detected by cystic fibrosis newborn screening. J Pediatr 2005;147:S69-S72. (Pubitemid 41400262)
7. American College of Obstetricians and Gynecologists and American College of Medical Genetics. Preconception and prenatal carrier screening for cystic fibrosis, clinical and laboratory guidelines. Washington DC: American College of Obstetricians and Gynecologists, 2001.
8. Richards CS, Bradley LA, Amos J, et al. Standards and guidelines for CFTR mutation testing. Genet Med 2002;4:379-391. (Pubitemid 44698553)
9. Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of the American College of Medical Genetics mutation panel. Genet Med 2004;6:387-391. (Pubitemid 39310514)
10. Strom CM, Huang D, Buller A, et al. Cystic fibrosis screening using the college panel: platform comparison and lessons learned from the first 20,000 samples. Genetic Med 2002;4:289-296. (Pubitemid 44698563)
11. Strom CM, Crossley B, Redman JB, et al. Cystic fibrosis screening: lessons learned from the first 320,000 patients. Genet Med 2004;6:136-140. (Pubitemid 38715505)
12. Strom CM, Huang D, Chen C, et al. Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med 2003;5:9-14. (Pubitemid 41184271)
13. Simon-Bouy B, Satre V, Ferec C, et al. Hyperechogenic fetal bowel: a large French collaborative study of 682 cases. Am J Med Genet A 2003;121A: 209-213. (Pubitemid 37107752)
14. Committee on Genetics, American College of Obstetricians and Gynecologists. ACOG Committee Opinion. Number 325, December, 2005. Update on carrier screening for cystic fibrosis. Obstet Gynecol 2005;106:1465-1468.
15. Hantash FM, Redman JB, Starn K, et al. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. Hum Genet 2006;119:126-136.
16. Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med 2002;347:401-407. (Pubitemid 34851832)
17. Raman V, Clary R, Siegrist KL, Zehnbauer B, Chatila TA. Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis. Pediatrics 2002; 109:E13.
18. Wang X, Moylan B, Leopold DA, et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 2000;284:1814-1819.
19. Wang X, Kim J, McWilliams R, Cutting GR. Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. Arch Otolar-yngol Head Neck Surg 2005;131:237-240. (Pubitemid 40349923)
20. Sharer N, Schwartz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-652. (Pubitemid 28402088)
21. de Cid R, Ramos MD, Aparisi L, et al. Independent contribution of common CFTR variants to chronic pancreatitis. Pancreas 2010;39:209-215.
22. Castellani C, Quinzii C, Altieri S, Mastella G, Assael BM. A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes. Genet Test 2001;5:249-254. (Pubitemid 34066170)
23. Collaco JM, Cutting GR. Update on gene modifiers in cystic fibrosis. Curr Opin Pulm Med 2008;14:559-566.
24. Grody WW, Cutting GR, Watson MS. The cystic fibrosis mutation "arms race": when less is more. Genet Med 2007;9:739-744. (Pubitemid 350129408)
25. Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. CFTR mutation distribution among US Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004;6:392-399. (Pubitemid 39304376)
26. Massaffi H, Prais D, Mei-Zahav M, Blau H. Cystic fibrosis mutations with widely variable phenotype: the D1152H example. Pediatr Pulmonol 2006; 41:250-254.
27. Burgel PR, Fajac I, Hubert D, et al. Non-classic cystic fibrosis associated with the D1152H CFTR mutation. Clin Genet 2010;77:355-364.
28. Toronto Sick Childrens CF mutation database. Available at: http://www. genet.sickkids.on.ca. Accessed May 24, 2001.
29. Casals T, Bassas L, Ruiz-Romero J, et al. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet 1995;95:205-211.
30. Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M. Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. Hum Genet 1995;96:717-720.
31. Dörk T, Macek M Jr, Mekus F, et al. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 2000;106:259-268. (Pubitemid 30201272)