{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["101(49)"],"submitter":["Wang Y"],"pubmed_abstract":["

Rationale

Maturity onset diabetes of the young (MODY) is the most common type of monogenic diabetes, characterized by autosomal dominant inheritance, the age of onset is often <25 years old, and the clinical manifestations are atypical. MODY12 is caused by a rare missense mutation of adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene and more than 50 ABCC8 variants were associated with MODY12.

Patient concerns

The patient was a 30-year-old Chinese Han man. He was overweight with a poor control of blood glucose.

Diagnoses

The patient was diagnosed with MODY12.

Interventions

The patient was given glimepiride (4 mg/d) with diet and exercise therapy to reduce blood glucose and weight.

Outcomes

The level of fasting blood glucose and C-peptide was improved after 1 year treatment as well as body weight.

Lessons

A Chinese Han adult with a heterozygous missense mutation c.3976G > A (p.Glu1326Lys) was diagnosed with MODY12, which was the new pathogenic mutation for the disease. This report expands the spectrum of variants causing MODY12 and reduces misdiagnosis."],"journal":["Medicine"],"pagination":["e32139"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9750649"],"repository":["biostudies-literature"],"pubmed_title":["A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation."],"pmcid":["PMC9750649"],"pubmed_authors":["Tong Q","Sang Q","Kang C","Qiao Q","Wang H","Wang X","Wang Y","Zhang R","Wang J","Xu J"],"additional_accession":[]},"is_claimable":false,"name":"A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation.","description":"

Rationale

Maturity onset diabetes of the young (MODY) is the most common type of monogenic diabetes, characterized by autosomal dominant inheritance, the age of onset is often <25 years old, and the clinical manifestations are atypical. MODY12 is caused by a rare missense mutation of adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene and more than 50 ABCC8 variants were associated with MODY12.

Patient concerns

The patient was a 30-year-old Chinese Han man. He was overweight with a poor control of blood glucose.

Diagnoses

The patient was diagnosed with MODY12.

Interventions

The patient was given glimepiride (4 mg/d) with diet and exercise therapy to reduce blood glucose and weight.

Outcomes

The level of fasting blood glucose and C-peptide was improved after 1 year treatment as well as body weight.

Lessons

A Chinese Han adult with a heterozygous missense mutation c.3976G > A (p.Glu1326Lys) was diagnosed with MODY12, which was the new pathogenic mutation for the disease. This report expands the spectrum of variants causing MODY12 and reduces misdiagnosis.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2025-04-19T20:50:51.212Z","creation":"2025-04-19T20:50:51.212Z"},"accession":"S-EPMC9750649","cross_references":{"pubmed":["36626423"],"doi":["10.1097/MD.0000000000032139"]}}