The Journal of Pediatrics
Volume 150, Issue 6 , Pages 656-658.e1 , June 2007

Chronic Lung Disease and Cystic Fibrosis Phenotype in Prolidase Deficiency: A Newly Recognized Association

  • A.S. Luder, MBBS

      Affiliations

    • Department of Pediatrics and Genetics, Ziv Medical Center, Safed
    • Rappaport Faculty of Medicine, Technion, Haifa
    • Corresponding Author InformationReprint requests: Dr Anthony S. Luder, Department of Pediatrics, Ziv Medical Center, Safed, 13100, Israel.
    • ,
  • H. Mandel, MD

      Affiliations

    • Rappaport Faculty of Medicine, Technion, Haifa
    • Department of Pediatrics B, Rambam Hospital, Haifa
    • ,
  • M. Khayat, PhD

      Affiliations

    • Institute of Human Genetics, Western Galilee Hospital, Naharriya
    • ,
  • I. Gurevich, MSc

      Affiliations

    • Institute of Human Genetics, Western Galilee Hospital, Naharriya
    • ,
  • P. Frankel, MSc

      Affiliations

    • Institute of Human Genetics, Western Galilee Hospital, Naharriya
    • ,
  • J. Rivlin, MD

      Affiliations

    • Rappaport Faculty of Medicine, Technion, Haifa
    • Cystic Fibrosis Center and the Department of Pediatrics, Carmel Hospital, Haifa, Israel.
    • ,
  • T.C. Falik-Zaccai, MD

      Affiliations

    • Institute of Human Genetics, Western Galilee Hospital, Naharriya

Received 24 February 2006 ,Revised 2 February 2007 ,Accepted 16 March 2007.

References 

  1. Mandel H, Abeling A, Gutman A, Berant M, Scholten EG, Sheiman C, et al. Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis. Prenat Diagn. 2000;20:927–929
  2. Hechtman P. Prolidase deficiency. In:  Scriver CR, et al. editor. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001;p. 1839–1853
  3. 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
  4. National Institutes of Health consensus development conference statement on genetic testing for cystic fibrosis. Arch Intern Med. 1999;159:1529–1539
  5. Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz MT, Zamir C, Rivlin J, et al. Cystic fibrosis mutations in Israeli-Arab patients. Hum Mutat. 1999;14:543
  6. Rosenbloom CL, Kerem BS, Rommens JM, Tsui LC, Wainwright B, Williamson R, et al. DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. Nucl Acids Res. 1989;17:7117
  7. Horn GT, Richards B, Merrill JJ, Klinger KW. Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus. Clin Chem. 1990;36:1614–1619
  8. Dork T, Neumann T, Wulbrand U, Wulf B, Kalin N, Maass G, et al. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet. 1992;88:417–425
  9. Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA. 1990;87:8447–8451
  10. Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, et al. A nonsense mutation of PEPD in four Amish children with prolidase deficiency. Am J Med Genet. 2006;140A:580–585
  11. Groman JD, Karczeski M, Sheridan M, Robinson T, Fallin M, et al. Phenotypic and genetic characterization of patients with features of “nonclassic” forms of cystic fibrosis. J Pediatr. 2005;146:675–680

PII: S0022-3476(07)00267-3

doi: 10.1016/j.jpeds.2007.03.025

The Journal of Pediatrics
Volume 150, Issue 6 , Pages 656-658.e1 , June 2007

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