[Analysis of a family with maturity-onset diabetes of the young type 6 due to a mutation in the NEUROD1 gene].

This study reported a family with maturity-onset diabetes of the young (MODY) type 6, and analyzed the clinical characteristics and pathogenic variant of the family. A retrospective analysis was conducted on a 38-year-old female patient with early-onset diabetes who presented to the Department of Endocrinology and Metabolism at Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine on June 6, 2024 due to "intermittent dry mouth, polydipsia, and polyphagia for 11 years, worsening for more than 20 days". Whole exome sequencing revealed that the patient carried a heterozygous variant in the neurogenic differentiation factor 1(NEUROD1)gene (c.1043C>A: p.A348D). Diagnosed as MODY6. Subsequently, Sanger sequencing was performed on four other direct family members, identifying the same variant in the patient's mother, diagnosed with diabetes at the age of 62, and the patient's son. Bioinformatics analysis suggested that the NEUROD1 p.A348D variant is likely pathogenic, and the encoded amino acid is located in the α-helix of the transcription activation domain of the NEUROD1 protein. This study identified the potential pathogenic role of the NEUROD1 p.A348D variant for the first time. The findings not only expand the existing clinical and genetic mutation profiles of MODY6, but also lay a foundation for the deeper understanding of the pathogenic role of the NEUROD1 gene.