ESPE Abstracts

Introduction: Alstrom syndrome, inherited in autosomal-recessive manner, is a complex multi-system disease including obesity, sensorineural hearing loss, retinal dystrophy, cardiomyopathy, type 2 diabetes mellitus, and multiple organ fibrosis. ALMS1 is the defective protein of Alstrom syndrome. The protein is located in the basal body of the primary cilia and involved in ciliary function. Large cohorts of Alstrom syndrome lack around the world, especially in East Asia.

Methods: 50 patients were included in this study, aged from 0.47 years to 21.66 years old. Detail phenotypic data and genetic data were obtained from all affected individuals. Truncated mutations were confirmed in all patients through genetic sequencing with Alstrom syndrome. And all Chinese patients reported previously were reviewed.

Results: 82% of the patients with Alstrom syndrome in our cohort were under 10 age years old, in which 37% were under 5 and 45% were during 5-10. Most of the patients in China were from East China, Centra China and South China. 61 different ALMS1 variants (59 truncating and 2 exon deletion) in 50 patients from 47 different families were confirmed, including 22 novel variants. The variant c.2090C>A was the most frequency variants in Chinese cohort. Retinal dystrophy was observed in all patients. Obesity and hepatic symptom were shown in over 50% of the patients.

Conclusions: This is the largest cohort of Chinese patients with Alstrom syndrome and it is the youngest cohort in the world. This study enriched the spectrum of genotypes and phenotypes.