What is it about?

Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK-MODY and HNF1A-MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY (GCK/HNF1A) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines.

Featured Image

Why is it important?

These findings expand the amount of MODY variants, and increase the total number of Brazilian subjects associated with this phenotype.

Perspectives

The proper characterization of allelic variants in a diagnostic routine is extremely important not only to justify and detail gene-disease association, but also to strengthen the interpretation of previously unrecognized changes. In this scenario, development and implementation of the necessary knowledge for evaluation and classification of genetic data, such as the ACMG guidelines, becomes crucial.

Lucas Santana

Read the Original

This page is a summary of: Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families, Clinical Genetics, April 2017, Wiley,
DOI: 10.1111/cge.12988.
You can read the full text:

Read

Resources

Contributors

The following have contributed to this page