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. |
 
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