A novel BLK heterozygous mutation (p.Met121lle) in maturity-onset diabetes mellitus: A case report and literature review

Fenjuan Xu; Xiaoting Chen; Tingting Hu; Ruqiong Sun; Fangying Zhu; Xiaohong Wu

doi:10.1111/dme.15491

A novel BLK heterozygous mutation (p.Met121lle) in maturity-onset diabetes mellitus: A case report and literature review

Diabet Med. 2025 Jan 3:e15491. doi: 10.1111/dme.15491. Online ahead of print.

Authors

Fenjuan Xu¹, Xiaoting Chen², Tingting Hu¹, Ruqiong Sun¹, Fangying Zhu¹, Xiaohong Wu²

Affiliations

¹ Department of Endocrinology, Tongxiang First People's Hospital, Tongxiang, China.
² Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Department of Endocrinology, Geriatric Medicine Center, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.

PMID: 39754319
DOI: 10.1111/dme.15491

Abstract

Maturity onset diabetes of the young (MODY) is a highly heterogeneous monogenic disease that occurs due to β-cell dysfunction. It is divided into different types depending on the gene mutated, and a total of 16 genes have been found to be associated with MODY. However, due to the current lack of understanding of monogenic diabetes, 90% of MODY is currently misdiagnosed and ignored in clinical practice. In this paper, we report the clinical data of a patient diagnosed with diabetes. Genetic testing revealed a novel BLK heterozygous mutation (c.363G>A) in the patient and in his father and son. He had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin. Precise diagnosis of MODY individuals is important to the treatment.

Keywords: BLK; MODY 11; monogenic diabetes.

Abstract

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