AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome


Parisi M., Doherty D., Eckert M., Shaw D., Ozyurek H., Aysun S., ...More

JOURNAL OF MEDICAL GENETICS, vol.43, no.4, pp.334-339, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 4
  • Publication Date: 2006
  • Doi Number: 10.1136/jmg.2005.036608
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.334-339
  • Dokuz Eylül University Affiliated: Yes

Abstract

Background: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1).