{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:29:09Z","timestamp":1762658949649,"version":"build-2065373602"},"reference-count":32,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,7]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold>\n                  <jats:italic>GJA8<\/jats:italic> encodes connexin-50, a gap junction protein in the eye lens. Mutations in <jats:italic>GJA8<\/jats:italic> have been reported in families with autosomal dominant cataract.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Objective:<\/jats:bold> To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> These results confirm involvement of <jats:italic>GJA8<\/jats:italic> in autosomal recessive cataract.<\/jats:p>","DOI":"10.1136\/jmg.2007.050138","type":"journal-article","created":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T13:38:49Z","timestamp":1183124329000},"page":"e85-e85","source":"Crossref","is-referenced-by-count":41,"title":["Mutation of the gap junction protein alpha 8 (<i>GJA8<\/i>) gene causes autosomal recessive cataract"],"prefix":"10.1136","volume":"44","author":[{"given":"Surya Prakash G","family":"Ponnam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kekunnaya","family":"Ramesha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sushma","family":"Tejwani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Balasubramanya","family":"Ramamurthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chitra","family":"Kannabiran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2007,6,29]]},"reference":[{"key":"2025101712113997000_44.7.e85.1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.116.4.545"},{"key":"2025101712113997000_44.7.e85.2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.80.7.628"},{"key":"2025101712113997000_44.7.e85.3","unstructured":"Online Mendelian Inheritance in Man, OMIM (TM). 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A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. 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