Biotinidase deficiency
OMIM:253260Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | BTD |
|---|---|
| Reference transcript | NM_000060.2 |
| DNA Change | c.1052delC |
| A.A. Change | p.Thr351LysfsX12 |
| Exon/Intron | exon4 |
| Mutation Type | deletion |
| Reference | Iqbal F, Item CB, Vilaseca MA, Jalan A, M?hl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA.The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab. 2010 May;100(1):42-5. |
| Gene Symbol | BTD |
|---|---|
| Reference transcript | NM_000060.2 |
| DNA Change | c.98_104delinsTCC |
| A.A. Change | p.Cys33PhefsX36 |
| Exon/Intron | exon2 |
| Mutation Type | indel |
| Reference | Iqbal F, Item CB, Vilaseca MA, Jalan A, M?hl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA.The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab. 2010 May;100(1):42-5. |
| Gene Symbol | BTD |
|---|---|
| Reference transcript | NM_000060.2 |
| DNA Change | c.1264_1265insC |
| A.A. Change | p.Leu422ProfsX23 |
| Exon/Intron | exon4 |
| Mutation Type | insertion |
| Reference | Iqbal F, Item CB, Vilaseca MA, Jalan A, M?hl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA.The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab. 2010 May;100(1):42-5. |