Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2001-10-8
pubmed:databankReference
pubmed:abstractText
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 approximately 1.3-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.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10391219, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10404588, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10601694, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10607665, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10710233, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10710235, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10712205, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10721832, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-10810093, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-11237008, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-1139147, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-1345170, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-1409539, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-3139924, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-3205858, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-3859205, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-4277517, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-5330405, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-545139, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-74568, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-7592952, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-7773290, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-7824952, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-8102507, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-8453375, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-8528251, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-8663220, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-8679005, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-9326940, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-9379946, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-9469583, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-9747278, http://linkedlifedata.com/resource/pubmed/commentcorrection/11590543-9889164
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
69
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1002-12
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
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