Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations

• Published in: Journal of human genetics Vol. 61; no. 6; pp. 555 - 560
• Main Authors: Velho, Renata Voltolini, Ludwig, Nataniel Floriano, Alegra, Taciane, Sperb-Ludwig, Fernanda, Guarany, Nicole Ruas, Matte, Ursula, Schwartz, Ida V D
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.06.2016
• Subjects: Adult; Alleles; Amino Acid Substitution; Biomarkers; Codon, Nonsense; DNA Copy Number Variations; Female; Gene Expression; Genotype; Homozygote; Humans; Male; Mucolipidoses - diagnosis; Mucolipidoses - genetics; Mutation; Phenotype; Polymorphism, Restriction Fragment Length; RNA Editing; RNA, Messenger - genetics; Sequence Analysis, DNA; Siblings; Transferases (Other Substituted Phosphate Groups) - genetics

Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are chara...