Bloom syndrome
OMIM:210900Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | BLM |
|---|---|
| Reference transcript | NM_000057.2 |
| DNA Change | c.2632T>C |
| A.A. Change | p.Cys878Arg |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Barakat A, Ababou M, Onclercq R, Dutertre S, Chadli E, Hda N, Benslimane A, Amor-Gueret M.Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Blooms syndrome. Hum Mutat. 2000 Jun;15(6):584-5. |
| Gene Symbol | BLM |
|---|---|
| Reference transcript | NM_000057.2 |
| DNA Change | c.581_582delTT |
| A.A. Change | p.Phe194X |
| Exon/Intron | exon 3 |
| Mutation Type | deletion |
| Reference | Amor-Gu?ret M, Dubois-d'Enghien C, Laug? A, Onclercq-Delic R, Barakat A, Chadli E, Bousfiha AA, Benjelloun M, Flori E, Doray B, Laugel V, Louren?o MT, Gon?alves R, Sousa S, Couturier J, Stoppa-Lyonnet D.Three new BLM gene mutations associated with Bloom syndrome. Genet Test. 2008 Jun;12(2):257-61. |
| Gene Symbol | BLM |
|---|---|
| Reference transcript | NM_000057.2 |
| DNA Change | c.3587delG |
| A.A. Change | p.Ser1196ThrfsX3 |
| Exon/Intron | exon 19 |
| Mutation Type | deletion |
| Reference | Amor-Gu?ret M, Dubois-d'Enghien C, Laug? A, Onclercq-Delic R, Barakat A, Chadli E, Bousfiha AA, Benjelloun M, Flori E, Doray B, Laugel V, Louren?o MT, Gon?alves R, Sousa S, Couturier J, Stoppa-Lyonnet D.Three new BLM gene mutations associated with Bloom syndrome. Genet Test. 2008 Jun;12(2):257-61. |