Journal of Diabetes Medication & Care

Shwachman Diamond Syndrome Open Access Journals

 Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a erratic congenital disorder considered by exocrine pancreatic inadequacy, bone marrow dysfunction, skeletal abnormalities and short stature. After cystic fibrosis (CF), it is the second most communal cause of exocrine pancreatic insufficiency in children. Shwachman–Diamond syndrome is considered by an autosomal recessive mode of inheritance. The gene that is altered in this syndrome, SBDS, lies on the long arm of chromosome 7 at cytogenetic position. It is composed of five exons and has an related mRNA transcript that is 1.6 kilobase pairs in length. The SBDS gene resides in a block of genomic order that is locally duplicated on the chromosome. The second copy comprises a non-functional version of the SBDS gene that is 97% identical to the original gene, but has accrued inactivating mutations over time. It is considered to be a pseudogene. In a study of 158 SDS families, 75% of disease-associated mutations seemed to be the result of gene conversion, while 89% of patients harbored at least one such mutation. Gene adaptation occurs when the intact SBDS gene and its pseudogene copy aberrantly recombine at meiosis, foremost to an incorporation of pseudogene-like sequences into the otherwise functional copy of the SBDS gene, thereby inactivating it. Two gene conversion mutations predominate in SDS patients. One is a splice site mutation affecting the 5' splice site of intron two, while the second is an exon two nonsense alteration.  

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