Department of Endocrinology, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou, China.
Front Endocrinol (Lausanne). 2020 Sep 11;11:645. doi: 10.3389/fendo.2020.00645. eCollection 2020.
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 (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 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.
青少年发病的成年型糖尿病（MODY）是一种单基因糖尿病，表现为常染色体显性遗传。其不典型的临床特征使得诊断困难，容易误诊为 1 型或 2 型糖尿病。目前已经诊断出 14 种 MODY 亚型，其中 MODY12 是由 （ATP 结合盒亚家族 C 成员 8）基因突变引起的，在中国很少见。本文报道了一个中国 MODY12 家系，其致病基因为 基因突变，该突变在中国或其他国家尚未报道与 MODY 相关，旨在提高临床医生对该疾病的认识和重视。
