cerebrotendinous xanthomatosis
OMIM:213700Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | CYP27A1 |
|---|---|
| Reference transcript | NM_000784.3 |
| DNA Change | c.819delT |
| A.A. Change | p.Asp273GlufsX13 |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, Berginer VM.Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. J Clin Invest. 1993 Jun;91(6):2488-96. |
| Gene Symbol | CYP27A1 |
|---|---|
| DNA Change | IVS4-1G>A |
| A.A. Change | |
| Exon/Intron | intron 4 |
| Mutation Type | substitution |
| Reference | Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, Berginer VM.Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. J Clin Invest. 1993 Jun;91(6):2488-96. |
| Gene Symbol | CYP27A1 |
|---|---|
| Reference transcript | NM_000784.3 |
| DNA Change | c.1016C>T |
| A.A. Change | p.Thr339Met |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Reshef A, Meiner V, Berginer VM, Leitersdorf E.Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin. J Lipid Res. 1994 Mar;35(3):478-83. |
Variant not named according to HGVS recommendations