Dr. Rommens gave some wonderful talks. As we all know, SDS is autosomal recessive. She went into the inheritance patterns of SDS, etc. The SBDS mutations (when someone had them) are in all the cells of the body. (Constitutional make up of all cells)
I took a lot of notes…… but am only putting in the *important stuff* . SBDS is 1/10th the size of the average gene (I thought this was interesting) There is an SBDS Pseudogene that we all have….yes, everyone has a copy of the SBDS pseudogene. The pseudogene (the SBDS P) has very little functioning protein and is very unstable.
To the best of their knowledge, carriers of SBDS (heterozygous/one gene copy) are unaffected
More than ½ of the SDS patients have the common mutations on exon 2
2 common mutations and 38 known rare mutations now
SDS exists all over the world and some changes are unique to the various populations (again, most have common 2 mutations on exon 2 >50%)
Small number of families with SDS disease and no identified mutations
Families without clinical picture of SDS disease with both hematological and pancreatic dysfunction (at least) do not have mutations in SBDS
One dilemma in SDS is that they do not know the impact of the genetic changes
SBDS is expressed in almost all tissues and they don’t; know why some don’t show symptoms (i.e. variability in disease)
SBDS is highly conserved in all organisms except for bacteria
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
