Mutation analysis of mucopolysaccharidosis type II and prenatal diagnosis

Abstract

To analyze the mutations of IDS gene in a mucopolysaccharidosis type II (MPSII) family and to make prenatal diagnosis on the high-risk fetus which has been pregnant for eleven weeks. IDS gene was analyzed by bidirectional DNA sequencing in 2 patients and their mother, and 5 unaffected individuals. Prenatal diagnosis for the high-risk fetus was performed by chorionic villus sampling after the genotypes was identified. The mutation c.344delA (N115fsX15) was detected in the two patients, and the mother of patients carried the heterozygous c.344delA (N115fsX15) mutation. None of the mutant was detected in the 5 unaffected subjects. The fetus carried c.344delA (N115fsX15) heterozygous mutation and was a carrier. The deletion mutation c.344delA (N115fsX15) is causative to the pedigree of MPSII, and prenatal diagnosis is the efficient method to avoid defect birth.