Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation)

Thomas M Glaser, Carl C T Ton, Robert Mueller, Maria Luiza Petzl-Erler, Christina Oliver, N. C. Nevin, David E. Housman, Richard L. Maas

Research output: Contribution to journalArticle

48 Scopus citations

Abstract

The PAX6 gene is expressed at high levels in the developing eye and cerebellum and is mutated in patients with autosomal dominant aniridia. We have tested the role of PAX6 mutations in three families with Gillespie syndrome, a rare autosomal recessive condition consisting of partial 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 segregates independently from chromosome 11p markers flanking PAX6. We conclude that Gillespie syndrome is genetically distinct from autosomal dominant aniridia.

Original languageEnglish (US)
Pages (from-to)145-148
Number of pages4
JournalGenomics
Volume19
Issue number1
DOIs
StatePublished - Jan 1 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Glaser, T. M., Ton, C. C. T., Mueller, R., Petzl-Erler, M. L., Oliver, C., Nevin, N. C., Housman, D. E., & Maas, R. L. (1994). Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation). Genomics, 19(1), 145-148. https://doi.org/10.1006/geno.1994.1024