CLINICAL AND MOLECULAR ANALYSIS IN JOUBERT-SYNDROME

Joubert syndrome is an autosomal recessive disorder comprising cerebel lar hypoplasia, hypotonia, developmental delay, abnormal respiratory p atterns, and abnormal eye movements, The biochemical basis of the Joub ert syndrome is unknown, We ascertained a cohort of 50 patients with t he Joubert syndrome to evaluate the presence of associated malformatio ns, and to initiate studies leading to the identification of the Joube rt syndrome gene, Only 8% of patients had polydactyly, 4% colobomas, 2 % renal cysts, and 2% had soft tissue tumors of the tongue. In additio n, we evaluated the WNT1 gene as a candidate gene for the Joubert synd rome based on its expression in the developing cerebellum and an assoc iated mutation in the swaying mouse, We searched for mutations in WNT1 in a series of Joubert syndrome patients and no mutations were detect ed, Our analysis suggests that mutations in WNT1 do not cause the Joub ert syndrome. (C) 1991 Wiley-Liss, Inc.