Endocrine Abstracts

Chromosome 17q12 deletion is rare. It results from the deletion of a piece of chromosome 17 in each cell. The most recognised phenotype of this mutation is a combination of kidney cysts and Maturity Onset Diabetes of the Young (MODY), which is also known as Renal Cysts and Diabetes syndrome (RCAD). RCAD is caused by a mutation in the gene encoding hepatocyte-nuclear-factor-1-beta (HNF1B) which is part of chromosome 17q12.Introduction: In 1997 while study...