Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 1, Issue -, Pages 98-102Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ymgmr.2014.01.002
Keywords
Mucolipidosis II/III; Germline mutation; De novo mutation; DNA mutational analysis; Molecular diagnostic
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Funding
- FIPE - HCPA
- FAPERGS
- CNPq ( Brazil)
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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. (C) 2014 The Authors. Published by Elsevier Inc.
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