Ataxia with isolated vitamin E deficiency
OMIM:277460Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | ATM |
|---|---|
| Reference transcript | NM_000051.3 |
| DNA Change | c.8977C>T |
| A.A. Change | p.Arg2993X |
| Exon/Intron | exon 64 |
| Mutation Type | substitution |
| Reference | Jeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia NeuroMolecular Medicine (Article in press) |
| Gene Symbol | TTPA |
|---|---|
| Reference transcript | NM_000370.3 |
| DNA Change | c.744delA |
| A.A. Change | p.Glu249AsnfsX15 |
| Exon/Intron | exon 5 |
| Mutation Type | deletion |
| Reference | Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M.Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet. 1998 Feb;62(2):301-10. |
| Gene Symbol | TTPA |
|---|---|
| Reference transcript | NM_000370.3 |
| DNA Change | c.486delT |
| A.A. Change | p.Trp163GlyfsX13 |
| Exon/Intron | exon 3 |
| Mutation Type | deletion |
| Reference | Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M.Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet. 1998 Feb;62(2):301-10. |
| Gene Symbol | TTPA |
|---|---|
| Reference transcript | NM_000370.3 |
| DNA Change | c.744delA |
| A.A. Change | p.Glu249AsnfsX15 |
| Exon/Intron | exon 5 |
| Mutation Type | deletion |
| Reference | Marzouki N, Benomar A, Yahyaoui M, Birouk N, Elouazzani M, Chkili T, Benlemlih M.Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet. 2005 Jan-Mar;48(1):21-8. |