A review on specific diabetes gene and inheritance

Transient neonatal diabetes mellitus (۶q۲۴-TNDM) is related to aberrationsof the imprinted gene at ۶q۲۴. The main features are severe intrauterinegrowth retardation, hyperglycemia that begins in infancy in a term infant andresolves by ۱۸ months of age, dehydration, and lack of ketoacidosis.Diabetes mellitus may get worst in adolescence or later in adulthood andWomen with ۶q۲۴-TNDM are at risk for being vulnerable during pregnancy.Diagnosis of ۶q۲۴-TNDM is made in a proband with transient neonataldiabetes mellitus and DNA methylation analysis that shows relativehypomethylation in the ۶q۲۴ different methylation region (DMR). ۶q۲۴-TNDM is caused by overexpression of imprinted genes at ۶q۲۴ (PLAGL۱and HYMAI). Normally, the expression of maternal alleles like PLAGL۱and HYMAI is silenced by DMR methylation, and only the paternal allelesof PLAGL۱ and HYMAI are expressed. Rehydration and IV insulin isusually needed at the time of diagnosis. Subsequent relapses of diabetes mayrequire diet modification alone, oral medications, or insulin. Prevention ofSecondary Complications: Prompt treatment of dehydration to preventcomplications. Monitoring the growth and development of at-risk relatives:Screening for diabetes mellitus in relatives who have inherited paternal ۶q۲۴recurrence or are at risk of inheriting two pathogens of ZFP۵۷.

کلیدواژه ها:

Diabetes mellitus ، Chromosome ۶q۲۴ ، Hyperglycemia ، Genomicimprinting ، PLAGL۱ and HYMAI