Joubert-like syndrome unlinked to known candidate loci

J Pediatr. 2004 Feb;144(2):264-9. doi: 10.1016/j.jpeds.2003.11.010.

Abstract

We observed the Joubert syndrome (JS) associated with bilateral morning glory disk anomaly and cystic dysplastic kidneys in three patients from a consanguineous kindred. Homozygosity mapping excluded three JS candidate loci as sites harboring the disease gene. We thus delineate an autosomal recessive disorder, distinct from JS and related conditions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cerebellum / abnormalities
  • Child, Preschool
  • Consanguinity
  • Female
  • Homozygote
  • Humans
  • Male
  • Meningocele / genetics
  • Optic Disk / abnormalities*
  • Optic Nerve Diseases / genetics*
  • Pedigree
  • Polycystic Kidney Diseases / genetics*
  • Pregnancy
  • Psychomotor Disorders / genetics
  • Respiration Disorders / genetics
  • Syndrome