Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Bloom syndrome

OMIM:210900
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolBLM
Reference transcriptNM_000057.2
DNA Changec.2632T>C
A.A. Changep.Cys878Arg
Exon/Intronexon 13
Mutation Typesubstitution
ReferenceBarakat 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 SymbolBLM
Reference transcriptNM_000057.2
DNA Changec.581_582delTT
A.A. Changep.Phe194X
Exon/Intronexon 3
Mutation Typedeletion
ReferenceAmor-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 SymbolBLM
Reference transcriptNM_000057.2
DNA Changec.3587delG
A.A. Changep.Ser1196ThrfsX3
Exon/Intronexon 19
Mutation Typedeletion
ReferenceAmor-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.