Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation)

Journal Article · Sat Jan 01 00:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1024· OSTI ID:6588974

Glaser, T; Maas, R L ^[1]; Ton, C C.T.; Housman, D E ^[2]; Mueller, R; Oliver, C ^[3]; Petzl-Erler, M L ^[4]; Nevin, N C ^[5]

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1. Harvard Medical School, Boston, MA (United States)
2. Massachusetts Institute of Technology, Cambridge, MA (United States)
3. Leeds General Infirmary (United Kingdom)
4. Federal Univ. of Parana, Curitiba (Brazil)
5. Queen's Univ. of Belfast (Ireland)

The PAX6 gene is expressed at high levels in the developing eye and cerebellum and is mutated in patients with autosomal dominant aniridia. The authors 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. The authors conclude that Gillespie syndrome is genetically distinct from autosomal dominant aniridia. 28 refs., 2 figs., 1 tab.

• OSTI ID: 6588974
• Journal Information: Genomics; (United States), Vol. 19:1; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CEREBELLUM
HEREDITARY DISEASES
EYES
GENE MUTATIONS
DETECTION
MENTAL DISORDERS
ETIOLOGY
GENETIC MAPPING
HUMAN CHROMOSOMES
BODY
BODY AREAS
BRAIN
CENTRAL NERVOUS SYSTEM
CHROMOSOMES
DISEASES
FACE
HEAD
MAPPING
MUTATIONS
NERVOUS SYSTEM
ORGANS
SENSE ORGANS
550400* - Genetics