a de novo or germline mutation in a family with mucolipidosis iii gamma: implications for molecular diagnosis and genetic counseling

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ID: 163238
2014
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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.
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velho2014moleculara Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Renata Voltolini Velho;Taciane Alegra;Fernanda Sperb;Nataniel Floriano Ludwig;Maria Luiza Saraiva-Pereira;Ursula Matte;Ida V.D. Schwartz
Journal advances in skin & wound care
Year 2014
DOI
10.1016/j.ymgmr.2014.01.002
URL
http://www.sciencedirect.com/science/article/pii/S2214426914000160
Keywords
germline mutation molecular diagnosticmedicine (general)biology (general)

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