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

Aruna Martha, Robert E. Ferrell, Helen Mintz-Hittner, Leslie A Lyons, Grady F. Saunders

Research output: Contribution to journalArticle

56 Scopus citations

Abstract

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 we describe five new mutations in the paired box region of the human PAX6 gene that are associated with aniridia. The paired box mutations that we detected were in both familial (three) and sporadic (two) cases. All five mutations predict truncated PAX6 proteins. Our study indicates that early premature translational termination mutations in the PAX6 gene result in haploinsufficiency and generate the aniridia phenotype.

Original languageEnglish (US)
Pages (from-to)801-811
Number of pages11
JournalAmerican Journal of Human Genetics
Volume54
Issue number5
StatePublished - 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Martha, A., Ferrell, R. E., Mintz-Hittner, H., Lyons, L. A., & Saunders, G. F. (1994). Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. American Journal of Human Genetics, 54(5), 801-811.