Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).</p><p><b>METHODS</b>For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing.</p><p><b>RESULTS</b>A novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous.</p><p><b>CONCLUSION</b>The c.709-1G>A splicing mutation of the IDS gene is probably causative for the MSP Ⅱ in the proband. Prenatal diagnosis for the mutation may avoid birth of further child affected with this disease.</p>