title: Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).
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.
authors.affiliation: Department of Medicine and Howard Hughes Medical Institute, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115.
authors.forename: T
authors.initials: T
authors.lastname: Glaser
authors.forename: C C
authors.initials: CC
authors.lastname: Ton
authors.forename: R
authors.initials: R
authors.lastname: Mueller
authors.forename: M L
authors.initials: ML
authors.lastname: Petzl-Erler
authors.forename: C
authors.initials: C
authors.lastname: Oliver
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
authors.forename: D E
authors.initials: DE
authors.lastname: Housman
authors.forename: R L
authors.initials: RL
authors.lastname: Maas
mesh_terms: D000483:Alleles; D015783:Aniridia / Q000145:classification / Q000235:genetics*; D001483:Base Sequence; D001938:Brazil; D002524:Cerebellar Ataxia / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins; D005260:Female; D005796:Genes; D018398:Homeodomain Proteins; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009660:Northern Ireland; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D011110:Polymorphism, Genetic; D012097:Repressor Proteins; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins