The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis

Journal of Medical Screening

Volumn 18, Issue 4, 2011, Pages 169-172

  Peleg, Leah ^a,b   Karpati, Mazal ^a   Bronstein, Silvia ^a   Berkenstadt, Michal ^a   Frydman, Moshe ^a,b   Yonath, Hagith ^a,b   Pras, Elon ^a,b  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; CYSTIC FIBROSIS; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENETICS; HETEROZYGOTE DETECTION; HUMAN; ISRAEL; JEW; MALE; MISSENSE MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDY;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENE FREQUENCY; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; ISRAEL; JEWS; MALE; MUTATION, MISSENSE; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84555190278     PISSN: 09691413     EISSN: 14755793     Source Type: Journal    
DOI: 10.1258/jms.2011.011044     Document Type: Article

References (15)

1. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005;352:1992-2001 (Pubitemid 40638370)
2. Davis PB. Cystic fibrosis since 1938. Am J Respir Crit Care Med 2006;173:475-82
3. McKone EF, Emerson SS, Edwards KL, Aitken ML. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003;361:1671-6 (Pubitemid 36577438)
4. McKone EF, Goss CH, Aitken ML. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest 2006;130:1441-7 (Pubitemid 44786738)
5. De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61:627-35 (Pubitemid 44035145)
6. De Gracia J, Mata F, Alvarez A, et al. Genotype-phenotype correlation for pulmonary function in cystic fibrosis. Thorax 2005;60:558-63 (Pubitemid 40966209)
7. Dörk T, Dworniczak B, Aulehla-Scholz C, et al. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 1997;100:365-77 (Pubitemid 27386842)
8. Orgad S, Neumann S, Loewenthal R, Netanelov-Shapira I, Gazit E. revalence of cystic fibrosis mutations in Israeli Jews. Genet Test 2001;5:47-52 (Pubitemid 32336509)
9. Quint A, Lerer I, Sagi M, Abeliovich D. Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. Am J Med Genet 2005;136:246-8 (Pubitemid 40967089)
10. Vankeerberghen A, Wei L, Teng H, et al. Characterization of mutations located in exon 18 of the CFTR gene. FEBS Lett 1998;437:1-4 (Pubitemid 28498229)
11. Highsmith Jr WE, Friedman KJ, Burch LH, et al. A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides. Clin Genet 005;68:88-90
12. Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. CFTR mutation istribution among US Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004;6:392-9 (Pubitemid 39304376)
13. 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)
14. Mussaffi H, Prais D, Mei-Zahav M, Blau H. Cystic fibrosis mutations with widely variable phenotype: the D1152H example. Pediatr Pulmonol 2006;41:250-4
15. Burgel PR, Fajac I, Hubert D, et al. Non-classic cystic fibrosis associated ith D1152H CFTR mutation. Clin Genet 2010;77:355-64