Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.

•We investigated eight pedigrees with rare autosomal recessive Mucopolysaccharidosis type IVA in south China.•Detailed genotypic and phenotypic correlation study of 8 families of mucopolysaccharidosis type IVA was performed.•Revealed three novel heterozygous mutations (c.686A>C, p.Y229S, c.1498G>T, p.G500C and c.278T>C, p.I93T) of GALNS gene.•Mutations were predicted to be pathogenic by clinical diagnosis, genetics analysis and bioinformatics.•It has an important role in future genetic counseling and aristogenesis.