{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T15:37:04Z","timestamp":1778945824095,"version":"3.51.4"},"reference-count":25,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p><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. The objective of this report was to identify the disease gene in a family with congenital cataract of autosomal recessive inheritance. Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls. A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family. These results confirm involvement of<jats:italic>GJA8<\/jats:italic>in autosomal recessive cataract.<\/jats:p>","DOI":"10.1136\/bcr.06.2009.1995","type":"journal-article","created":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T06:23:58Z","timestamp":1246429438000},"page":"bcr0620091995","source":"Crossref","is-referenced-by-count":4,"title":["Mutation of the gap junction protein alpha 8 (<i>GJA8<\/i>) gene causes autosomal recessive cataract"],"prefix":"10.1136","volume":"2009","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":[[2009,6,30]]},"reference":[{"key":"2025042508042809000_2009.jun30_1.bcr0620091995.1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.116.4.545-a"},{"key":"2025042508042809000_2009.jun30_1.bcr0620091995.2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.80.7.628"},{"key":"2025042508042809000_2009.jun30_1.bcr0620091995.3","unstructured":"Online Mendelian Inheritance in Man, OMIM (TM). 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