A homozygote splice site XXXX mutation as cause of @entity5527 gives rise to two different abnormal transcripts.

@entity1 @entity124 @entity1313 @entity5 @entity14437 @entity5527 @entity74 @entity14 @entity6523 @entity73093 @entity1412 @entity1491
@entity5527 is a rare, @entity74 in the central nerve system and in the colorectal system. This report describes a Turcot @entity1 with an extraordinary clinical history. The @entity1 is still alive at the age of 43. She was operated at the age of 10 by @entity1313 and at the age of 16 by @entity14 . She has since then been treated for multiple @entity5 ( @entity1491 ), and removal of @entity6523 at several occasions. The aim of this work was to investigate if there was any specific genotype that explains her remarkable clinical history. @entity124 and immunohistochemistry analysis for four DNA mismatch repair proteins were performed. DNA mutation analysis was done for genes involved in @entity1412 and mismatch repair by denaturing high performance liquid chromatography and sequencing. cDNA analysis was carried out for the mismatch repair gene @entity14437 . The @entity1 genotype was found to be a homozygous splice site mutation in the @entity14437 gene, @entity73093 , which resulted in two abnormal transcripts, not one as expected. The @entity1 's long time survival may in part be explained by meticulous follow up by health care professionals. The other importing factor is probably the nature of here genotype. cDNA analysis showed that the homozygous mutation led to two abnormal transcripts, of which one is perhaps less detrimental. Thus cDNA analysis is of prime importance for the full evaluation of the effect of putative splicing mutations.
