Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease.
Hunter disease, Mucopolysaccharidosis type II, is an X-linked recessive lysosomal storage disorder caused by a deficiency in iduronate sulfatase activity. We studied at molecular level a Neapolitan family with the disease. We report, in patient, the delta 139 mutation on the third exon of the gene, on female family members, the DNA analysis that allowed to assess or exclude their carrier status and on fetal DNA from a pregnancy of patient's mother, a prenatal diagnosis that resulted negative.
D001483:Base Sequence; D015193:Chorionic Villi Sampling; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D014960:X Chromosome