DMO03 CEP290 mutations are a frequent cause of Joubert syndrome with oculo-renal involvement

MKS3/TMEM67 mutations are a major cause

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

✍ Francesco Brancati; Miriam Iannicelli; Lorena Travaglini; Annalisa Mazzotta; Enr 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 852 KB

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRD