Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome
Abstract
BACKGROUND: Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural hearing loss, metabolic disturbances, and progressive multiorgan involvement. Ciliopathies share considerable clinical overlap, and some cases present with features that resemble AS without meeting all diagnostic criteria. This study aims to identify the pathogenic variants in a Chinese patient with a ciliopathy resembling AS.
CASE PRESENTATION: We report a 27-year-old Chinese female with a body mass index (BMI) of 28.4 kg/m2. The patient initially presented with progressive hearing loss at age 2 years, followed by visual impairment beginning at age 8 years. At age 17 years, she developed progressive alopecia accompanied by scaly, patchy papules. By age 22 years, she was diagnosed with polycystic ovary syndrome (PCOS) and type 2 diabetes mellitus (T2DM). Laboratory investigations revealed dyslipidemia and hyperinsulinemia. Abdominal ultrasonography demonstrated hepatic steatosis and medullary sponge kidney, while pelvic ultrasound indicated polycystic ovarian morphology. Echocardiography revealed ventricular septal thickening. Whole-exome sequencing (WES) identified that our patient was a compound heterozygote for two novel variants in the ALMS1 gene, comprising c.12114 + 1G>T and c.1856_1860dup (p.Ser621Leufs*23). Both variants…
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