A Missense Mutation of IDS Gene in A Chinese Child with Mucopolysaccharidosis Type Ⅱ / 现代检验医学杂志

ABSTRACT

Objective To study the clinical characteristics and iduronate-2-sulfatase (IDS)gene mutation of one child patient with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).Methods All the 9 exons of IDS gene were amplified by polymerase chain reaction (PCR)technlogy.The PCR products were screened by direct gene Sanger sequencing.Results A missense muta-tion (c.445T>C)on exon 4 was found after the analysis of the gene sequencing results of PCR products in this patient’s IDS gene.Thi smutation leaded to the 149th codon TCT encoded serine into a CCT encoding proline (p.Ser149Pro).Mean-while,the IDS gene in the parents were widetpye,so this was a de novo mutation.Conclusion The de novo mutation of IDS gene is the cause of our patient with?mucopolysaccharidosis,one novel mutation (p.Ser149Pro)was identified.