Molecular diagnosis of maturity onset diabetes of the young in Iranian patients: improving management.

ABSTRACT:

Background

The purpose of this study is to identify the mutations of the most common form of maturity-onset diabetes of the young (MODY), also known as MODY3, in diabetic patients suspected of MODY. This can recommend appropriate medical surveillance of at-risk family members of MODY based on the genetic cause.

Methods

We analyzed the clinical course of 19 patients from 12 unrelated Iranian families with diabetes features. The coding regions and intron-exon boundaries of the hepatocyte nuclear factor 1 alpha (HNF1A) gene were studied by polymerase chain reaction (PCR) and sanger sequencing. Also, the detected mutation was analyzed by bioinformatics tools.

Results

One novel frameshift insertion mutation (p.Glu11Argfs*12) was detected in one of the probands and seven ot

SUBMITTER: Davoudi F 

PROVIDER: S-EPMC8630313 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature