Simin Zhang, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Yingying Lou, Yumin Ma, Xiuying Zhang, Qian Ren, Yu Zhu, Jing Wu, Lingli Zhou, Yufeng Li, Xianghai Zhou, Xueyao Han, Linong Ji
AIMS: Alström syndrome (AS) is a rare recessive disorder characterised by diabetes, obesity, insulin resistance (IR), and visual and hearing impairments. Mutations in the ALMS1 gene have been identified as the causative agents of AS. This study aimed to explore the relationship between rare ALMS1 variants and clinical features in Chinese patients with early-onset type 2 diabetes (age at diagnosis ≤40 years; EOD). MATERIALS AND METHODS: ALMS1 gene sequencing was performed in 611 Chinese individuals with EOD, 36 with postprandial hyperinsulinemia, and 47 with pre-diabetes and fasting IR...
May 2024: Diabetes/metabolism Research and Reviews