LAUSR

Dear Editor, Alström syndrome (ALMS, OMIM 203800) is a rare autosomal recessive disease with an estimated prevalence of 1–9 per 1,000,000 worldwide (1,2). It usually involves multiple organs and tissues including the eye, ear, kidney, heart, liver, lung, and so on, showing as cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, diabetes mellitus, cardiomyopathy, hypogonadism, pulmonary, hepatic, renal failure, and systemic fibrosis (3,4). It is often misdiagnosed as BardetBiedl syndrome (BBS) because ALMS has many clinical features similar to BBS. Molecular diagnosis is helpful for differentiating these two diseases (5). Here, we describe the clinical features of five patients with ALMS confirmed by molecular diagnosis, and find seven novel pathogenic variants in the ALSM1 gene.