American Journal of Kidney Diseases
Volume 53, Issue 5 , Pages 790-795 , May 2009

Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3

  • Michael A. Simpson, PhD

      Affiliations

    • Medical Genetics, Clinical Developmental Sciences, St George's University of London, London, UK
    • ,
  • Harold E. Cross, PhD, MD

      Affiliations

    • Department of Ophthalmology and Vision Science, University of Arizona School of Medicine, Tucson, AZ
    • ,
  • Leroy Cross

      Affiliations

    • Windows of Hope Genetics Study, Goshen, IN
    • ,
  • Mervin Helmuth

      Affiliations

    • Windows of Hope Genetics Study, Goshen, IN
    • ,
  • Andrew H. Crosby, PhD

      Affiliations

    • Medical Genetics, Clinical Developmental Sciences, St George's University of London, London, UK
    • Corresponding Author InformationAddress correspondence to Andrew Crosby, PhD, Medical Genetics, Clinical Developmental Sciences, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK

Received 16 September 2008 ,Accepted 11 December 2008.

References 

  1. Hildebrandt F, Omram H. New insights: Nephronophthisis-medullary cystic kidney disease. Pediatr Nephrol. 2001;16:168–176
  2. Fliegauf M, Horvath J, von Schnakenburg C, et al. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol. 2006;17:2424–2433
  3. Olbrich H, Fliegauf M, Hoefele J, et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet. 2003;34:455–459
  4. Bergmann C, Fliegauf M, Bruchle NO, et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008;82:959–970
  5. Reed JA, Wilkinson PA, Patel H, et al. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics. 2005;6:79–84

 Originally published online as doi:10.1053/j.ajkd.2008.12.026 on March 23, 2009.

PII: S0272-6386(09)00142-5

doi: 10.1053/j.ajkd.2008.12.026

American Journal of Kidney Diseases
Volume 53, Issue 5 , Pages 790-795 , May 2009

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