Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.

Abstract

BACKGROUND:

GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract.

OBJECTIVE:

To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance.

METHODS:

Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls.

RESULTS:

A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family.

CONCLUSIONS:

These results confirm involvement of GJA8 in autosomal recessive cataract.

• Authors: Surya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, Chitra Kannabiran
• Journal: Journal of medical genetics (J Med Genet) Vol. 44 Issue 7 Pg. e85 (Jul 2007) ISSN: 1468-6244 [Electronic] England
• PMID: 17601931 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Connexins
• DNA Primers
• Eye Proteins
• connexin 50

Topics

• Amino Acid Sequence
• Base Sequence
• Cataract (genetics)
• Connexins (genetics)
• DNA Mutational Analysis
• DNA Primers (genetics)
• Electrophoresis, Polyacrylamide Gel
• Eye Proteins (genetics)
• Frameshift Mutation (genetics)
• Genes, Recessive (genetics)
• Humans
• Molecular Sequence Data
• Pedigree