[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeâ¡].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):58-60

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

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[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeâ¡].

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[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeâ ¡].

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[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeâ¡].