dc.contributor.author | Lefevre, C | |
dc.contributor.author | Jobard, F | |
dc.contributor.author | Caux, F | |
dc.contributor.author | Bouadjar, B | |
dc.contributor.author | Karaduman, A | |
dc.contributor.author | Heilig, R | |
dc.contributor.author | Lakhdar, H | |
dc.contributor.author | Wollenberg, A | |
dc.contributor.author | Verret, JL | |
dc.contributor.author | Weissenbach, J | |
dc.contributor.author | Ozguc, M | |
dc.contributor.author | Lathrop, M | |
dc.contributor.author | Prud'homme, JF | |
dc.contributor.author | Fischer, J | |
dc.date.accessioned | 2019-12-12T06:25:33Z | |
dc.date.available | 2019-12-12T06:25:33Z | |
dc.date.issued | 2001 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.uri | https://doi.org/10.1086/324121 | |
dc.identifier.uri | http://hdl.handle.net/11655/16295 | |
dc.description.abstract | Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We previously localized a gene for a subset of NCIE to chromosome 3 (designated "the NCIE2 locus"), in six families. Lipid droplets were found in five of these six families, suggesting a diagnosis of CDS. Four additional families selected on the basis of a confirmed diagnosis of CDS also showed linkage to the NCIE2 locus. Linkage-disequilibrium analysis of these families, all from the Mediterranean basin, allowed us to refine the NCIE2 locus to an similar to1.3-Mb region. Candidate genes from the interval were screened, and eight distinct mutations in the recently identified CGI-58 gene were found in 13 patients from these nine families. The spectrum of gene variants included insertion, deletion, splice-site, and point mutations. The CGI-58 protein belongs to a large family of proteins characterized by an alpha/beta hydrolase fold. CGI-58 contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. Interestingly, CGI-58 differs from other members of the esterase/lipase/thioesterase subfamily in that its putative catalytic triad contains an asparagine in place of the usual serine residue. | |
dc.language.iso | en | |
dc.publisher | Cell Press | |
dc.relation.isversionof | 10.1086/324121 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Genetics & Heredity | |
dc.title | Mutations In Cgi-58, The Gene Encoding A New Protein Of The Esterase/Lipase/Thioesterase Subfamily, In Chanarin-Dorfman Syndrome | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | American Journal Of Human Genetics | |
dc.contributor.department | Tıbbi Biyoloji | |
dc.identifier.volume | 69 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 1002 | |
dc.identifier.endpage | 1012 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |