Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins

Journal Article · Sun May 01 00:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:7076360

Martha, A; Saunders, G F ^[1]; Mintz-Hittner, H ^[2]; Lyons, L A ^[3]

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1. Univ. of Texas M.D. Anderson Cancer Center, Houston, TX (United States)
2. Baylor College of Medicine, Houston, TX (United States)
3. Univ. of Pittsburgh, PA (United States)

Aniridia, an autosomal dominant ocular disorder characterized by iris hypoplasia, results from mutations in the PAX6 gene, which encodes paired box and homeobox motifs. In this report the authors describe five new mutations in the paired box region of the human PAX6 gene that are associated with aniridia. The paired box mutations detected were in both familial (three) and sporadic (two cases) cases. All five mutations predict truncated PAX6 proteins. This study indicates that early premature translational termination mutations in the PAX6 gene result in haploinsufficiency and generate the aniridia phenotype. 32 refs., 6 figs., 2 tabs.

• OSTI ID: 7076360
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
BODY AREAS
CHROMOSOMES
DETECTION
DISEASES
EYES
FACE
GENE MUTATIONS
GENETIC MAPPING
HEAD
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
ORGANS
SENSE ORGANS