Ontology highlight
ABSTRACT:
SUBMITTER: Ponnam SP
PROVIDER: S-EPMC2598012 | biostudies-literature | 2007 Jul
REPOSITORIES: biostudies-literature
Ponnam Surya Prakash G SP Ramesha Kekunnaya K Tejwani Sushma S Ramamurthy Balasubramanya B Kannabiran Chitra C
Journal of medical genetics 20070701 7
<h4>Background</h4>GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract.<h4>Objective</h4>To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance.<h4>Methods</h4>Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls.<h4>Results</h4>A single base insertion leading to frameshif ...[more]