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Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance.

Diabetes/metabolism research and reviews - 1 May 2024

Zhang Simin, Gong Siqian, Li Meng, Cai Xiaoling, Liu Wei, Lou Yingying, Ma Yumin, Zhang Xiuying, Ren Qian, Zhu Yu, Wu Jing, Zhou Lingli, Li Yufeng, Zhou Xianghai, Han Xueyao, Ji Linong

Abstract excerpt

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)....

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PMID: 38546151
DOI: 10.1002/dmrr.3788

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