ABSENCE OF PAX6 GENE-MUTATIONS IN GILLESPIE SYNDROME (PARTIAL ANIRIDIA, CEREBELLAR-ATAXIA, AND MENTAL-RETARDATION)

The PAX6 gene is expressed at high levels in the developing eye and ce rebellum and is mutated in patients with autosomal dominant aniridia. We have tested the role of PAX6 mutations in three families with Gille spie syndrome, a rare autosomal recessive condition consisting of part ial aniridia, cerebellar ataxia, and mental retardation. Single-strand conformational polymorphism analysis of affected individuals revealed no alteration of PAX6 sequences. In two families, the disease trait s egregates independently from chromosome 11p markers flanking PAX6. We conclude that Gillespie syndrome is genetically distinct from autosoma l dominant aniridia. (C) 1994 Academic Press, Inc.