摘要：Abstract Mucolipidosis {III} (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the {GNPTG} gene. The present study consists of a report of a Brazilian compound heterozygote patient with {ML} {III} gamma resulting from one mutant paternal allele and one allele that had most likely undergone a de novo or maternal germline mutation. This is the first report of a de novo mutation in {ML} {III} gamma. This finding has significant implications for genetic counseling.
关键词：Mucolipidosis II/III; Germline mutation; De novo mutation; DNA mutational analysis; Molecular diagnostic
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