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

Journal Article · Fri Dec 31 23:00:00 EST 1993 · 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), Journal Name: Genomics; (United States) Vol. 19:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

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