Chanarin-Dorfman Syndrome
OMIM:275630Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | ABHD5 |
|---|---|
| Reference transcript | NM_016006.4 |
| DNA Change | c.19G>A |
| A.A. Change | p.Glu7Lys |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozg?c M, Lathrop M, Prud'homme JF, Fischer J.Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001 Nov;69(5):1002-12. |