{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kelberman D"],"funding":["Great Ormond Street Hospital Childrens Charity","Fight for Sight","Medical Research Council","National Institute for Health Research (NIHR)","Rosetrees","Wellcome Trust"],"pagination":["2511-26"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3990155"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(10)"],"pubmed_abstract":["Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably affecting the iris and retina. This mutation, c.85G>T, introduces a premature termination codon (p.Glu29*) predicted to truncate the SALL2 protein so that it lacks three clusters of zinc-finger motifs that are essential for DNA-binding activity. This discovery identifies SALL2 as the third member of the Drosophila homeotic Spalt-like family of developmental transcription factor genes implicated in huma"],"journal":["Human molecular genetics"],"pubmed_title":["Mutation of SALL2 causes recessive ocular coloboma in humans and mice."],"pmcid":["PMC3990155"],"funding_grant_id":["1976","MC_PC_15004","M257","V1296","G0700089","NF-SI-0513-10008","V1257","V1239","GR082557"],"pubmed_authors":["Stupka E","Patel A","Wolf S","Bitner-Glindzicz M","Buck A","Beales PL","Chanudet E","Jacques TS","Liasis A","Bacchelli C","Lehmann OJ","Kohlhase J","Kelberman D","Islam L","Lakowski J","Sowden JC","Nischal KK","Lescai F"],"additional_accession":[]},"is_claimable":false,"name":"Mutation of SALL2 causes recessive ocular coloboma in humans and mice.","description":"Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably affecting the iris and retina. This mutation, c.85G>T, introduces a premature termination codon (p.Glu29*) predicted to truncate the SALL2 protein so that it lacks three clusters of zinc-finger motifs that are essential for DNA-binding activity. This discovery identifies SALL2 as the third member of the Drosophila homeotic Spalt-like family of developmental transcription factor genes implicated in huma","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 May","modification":"2026-04-29T04:43:46.982Z","creation":"2026-04-29T03:08:11.106Z"},"accession":"S-EPMC3990155","cross_references":{"pubmed":["24412933"],"doi":["10.1093/hmg/ddt643"]}}