Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)


Otto E. A. , Tory K., Attanasio M., Zhou W., Chaki M., Paruchuri Y., ...More

JOURNAL OF MEDICAL GENETICS, vol.46, no.10, pp.663-670, 2009 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 10
  • Publication Date: 2009
  • Doi Number: 10.1136/jmg.2009.066613
  • Title of Journal : JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.663-670

Abstract

Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis.