OMIM: 275630Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ABHD5 |
|---|
| Dna Change: | c.773-1G>A |
|---|
| Protein Change: | splice site acceptor |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Splice site |
|---|
| Location: | intron 4 |
|---|
| Transcript: | NM_016006.4 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Tunisia | NA | NA | 2 families | NA | Lefèvre C et al., 2001Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc 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; 69(5):1002-12 |
References
Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc 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; 69(5):1002-12