Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.

Background: Sialidosis type 1 (ST-1) is a rare autosomal recessive disorder caused by mutation in the NEU1 gene. However, limited reports on ST-1 patients in the Chinese mainland are available.

Methods: This study reported the genetic and clinical characteristics of 10 ST-1 patients from southeastern China.