RGD Reference Report - Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. - Rat Genome Database

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Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

Authors: Lefevre, C  Jobard, F  Caux, F  Bouadjar, B  Karaduman, A  Heilig, R  Lakhdar, H  Wollenberg, A  Verret, JL  Weissenbach, J  Ozguc, M  Lathrop, M  Prud'homme, JF  Fischer, J 
Citation: Lefevre C, etal., Am J Hum Genet. 2001 Nov;69(5):1002-12. Epub 2001 Oct 2.
RGD ID: 1598668
Pubmed: (View Article at PubMed) PMID:11590543
DOI: Full-text: DOI:10.1086/324121

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.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Abhd5  (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase)

Genes (Mus musculus)
Abhd5  (abhydrolase domain containing 5)

Genes (Homo sapiens)
ABHD5  (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase)


Additional Information