Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.

ABSTRACT:

Background

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early efficient diagnosis of their asymptomatic relatives, it is crucial to set an accurate molecular diagnosis. Hence, our aim was to determine the frequency of HNF1A and GCK genes among Moroccan-suspected MODY patients.

Methods

Twenty suspected MODY patients were screened for HNF1A and GCK mutations using Sanger sequencing and MLPA methods. Segregation analysis of identified mutations was performed among family members. The pathogenic nature of missense variants was predicted using bioinformatic tools.

Results

A total of two mutati

SUBMITTER: Trhanint S 

PROVIDER: S-EPMC9152556 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature