Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

Petra M. Jakobs, John F. Hess, Paul G FitzGerald, Patricia Kramer, Richard G. Weleber, Michael Litt

Research output: Contribution to journalArticle

142 Citations (Scopus)

Abstract

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least one-third of all cases are familial; autosomal-dominant congenital cataract appears to be the most- common familial form in the Western world. Elsewhere, in family ADCC-3, we mapped an autosomal-dominant cataract gene to chromosome 3q21-q22, near the gene that encodes a lens-specific beaded filament protein gene, BFSP2. By sequencing the coding regions of BFSP2, we found that a deletion mutation, ΔE233, is associated with cataracts in this family. This is the first report of an inherited cataract that is caused by a mutation in a cytoskeletal protein.

Original languageEnglish (US)
Pages (from-to)1432-1436
Number of pages5
JournalAmerican Journal of Human Genetics
Volume66
Issue number4
DOIs
StatePublished - 2000

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Sequence Deletion
Cataract
Eye Abnormalities
Antibody-Dependent Cell Cytotoxicity
Dominant Genes
Western World
Proteins
Cytoskeletal Proteins
Blindness
Lenses
Chromosomes
Mutation
Genes
Autosomal Dominant Cataract

ASJC Scopus subject areas

  • Genetics

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Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. / Jakobs, Petra M.; Hess, John F.; FitzGerald, Paul G; Kramer, Patricia; Weleber, Richard G.; Litt, Michael.

In: American Journal of Human Genetics, Vol. 66, No. 4, 2000, p. 1432-1436.

Research output: Contribution to journalArticle

Jakobs, Petra M. ; Hess, John F. ; FitzGerald, Paul G ; Kramer, Patricia ; Weleber, Richard G. ; Litt, Michael. / Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. In: American Journal of Human Genetics. 2000 ; Vol. 66, No. 4. pp. 1432-1436.
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