AUTHOR=Lin Leweihua , Quan Huibiao , Chen Kaining , Chen Daoxiong , Lin Danhong , Fang Tuanyu 

TITLE=ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): A Report of a Chinese Family

JOURNAL=Frontiers in Endocrinology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2020.00645

DOI=10.3389/fendo.2020.00645

ISSN=1664-2392

ABSTRACT=<p>Maturity-onset diabetes mellitus of the young (MODY) is a monogenic diabetes characterized by autosomal dominant inheritance. Its atypical clinical features make diagnosis difficult and it can be misdiagnosed as type 1 or type 2 diabetes. Fourteen subtypes of MODY have been diagnosed so far, of which MODY12 is caused by mutation of the <italic>ABCC8</italic> (ATP Binding Cassette Subfamily C Member 8) gene, which is rarely reported in China. This paper reports a Chinese family of MODY12 caused by a rare missense mutation on the <italic>ABCC8</italic> gene, which has not been reported to be associated with MODY in China or in other countries, with the aim of increasing clinicians' awareness and attention to the disease.</p>