Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations
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...
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Published in | Journal of human genetics Vol. 61; no. 6; pp. 555 - 560 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
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Nature Publishing Group
01.06.2016
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Abstract | 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 characterized by missorting of lysosomal enzymes. In this report, we describe the probable occurrence of mRNA editing in two ML III gamma patients. Patients A and B (siblings) presented at the adult age with a typical clinical picture of ML III gamma, mainly compromising bone and joints, and high levels of lysosomal enzymes in plasma and low levels in fibroblasts. Both were found to be homozygous for c.-112C>G and c.328G>T (p.Glu110Ter) mutations in genomic DNA (gDNA) analysis of GNPTG. Analysis of complementary DNA (cDNA), however, showed normal genotypes for both patients. Low GNPTG mRNA expression was observed in both patients. The mRNA editing can explain the differences found in patients A and B regarding gDNA and cDNA analysis, and the mild clinical phenotype associated with homozygosity for a nonsense mutation. Our results suggest that mRNA editing can be more frequent than expected in monogenic disorders and that GNPTG analysis should be performed on gDNA. |
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AbstractList | 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 characterized by missorting of lysosomal enzymes. In this report, we describe the probable occurrence of mRNA editing in two ML III gamma patients. Patients A and B (siblings) presented at the adult age with a typical clinical picture of ML III gamma, mainly compromising bone and joints, and high levels of lysosomal enzymes in plasma and low levels in fibroblasts. Both were found to be homozygous for c.-112C>G and c.328G>T (p.Glu110Ter) mutations in genomic DNA (gDNA) analysis of GNPTG. Analysis of complementary DNA (cDNA), however, showed normal genotypes for both patients. Low GNPTG mRNA expression was observed in both patients. The mRNA editing can explain the differences found in patients A and B regarding gDNA and cDNA analysis, and the mild clinical phenotype associated with homozygosity for a nonsense mutation. Our results suggest that mRNA editing can be more frequent than expected in monogenic disorders and that GNPTG analysis should be performed on gDNA. Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the gamma -subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missorting of lysosomal enzymes. In this report, we describe the probable occurrence of mRNA editing in two ML III gamma patients. Patients A and B (siblings) presented at the adult age with a typical clinical picture of ML III gamma, mainly compromising bone and joints, and high levels of lysosomal enzymes in plasma and low levels in fibroblasts. Both were found to be homozygous for c.-112C>G and c.328G>T (p.Glu110Ter) mutations in genomic DNA (gDNA) analysis of GNPTG. Analysis of complementary DNA (cDNA), however, showed normal genotypes for both patients. Low GNPTG mRNA expression was observed in both patients. The mRNA editing can explain the differences found in patients A and B regarding gDNA and cDNA analysis, and the mild clinical phenotype associated with homozygosity for a nonsense mutation. Our results suggest that mRNA editing can be more frequent than expected in monogenic disorders and that GNPTG analysis should be performed on gDNA. 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 characterized by missorting of lysosomal enzymes. In this report, we describe the probable occurrence of mRNA editing in two ML III gamma patients. Patients A and B (siblings) presented at the adult age with a typical clinical picture of ML III gamma, mainly compromising bone and joints, and high levels of lysosomal enzymes in plasma and low levels in fibroblasts. Both were found to be homozygous for c.-112C>G and c.328G>T (p.Glu110Ter) mutations in genomic DNA (gDNA) analysis of GNPTG. Analysis of complementary DNA (cDNA), however, showed normal genotypes for both patients. Low GNPTG mRNA expression was observed in both patients. The mRNA editing can explain the differences found in patients A and B regarding gDNA and cDNA analysis, and the mild clinical phenotype associated with homozygosity for a nonsense mutation. Our results suggest that mRNA editing can be more frequent than expected in monogenic disorders and that GNPTG analysis should be performed on gDNA. |
Author | Schwartz, Ida V D Velho, Renata Voltolini Ludwig, Nataniel Floriano Sperb-Ludwig, Fernanda Guarany, Nicole Ruas Alegra, Taciane Matte, Ursula |
Author_xml | – sequence: 1 givenname: Renata Voltolini surname: Velho fullname: Velho, Renata Voltolini organization: Postgraduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil – sequence: 2 givenname: Nataniel Floriano surname: Ludwig fullname: Ludwig, Nataniel Floriano organization: Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil – sequence: 3 givenname: Taciane surname: Alegra fullname: Alegra, Taciane organization: Postgraduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil – sequence: 4 givenname: Fernanda surname: Sperb-Ludwig fullname: Sperb-Ludwig, Fernanda organization: Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil – sequence: 5 givenname: Nicole Ruas surname: Guarany fullname: Guarany, Nicole Ruas organization: Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil – sequence: 6 givenname: Ursula surname: Matte fullname: Matte, Ursula organization: Department of Genetics, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil – sequence: 7 givenname: Ida V D surname: Schwartz fullname: Schwartz, Ida V D organization: Department of Genetics, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves, Porto Alegre, RS, Brazil |
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CitedBy_id | crossref_primary_10_3390_ijms21186812 crossref_primary_10_1002_humu_23243 crossref_primary_10_1097_MCD_0000000000000249 crossref_primary_10_1590_1678_4685_gmb_2018_0246 crossref_primary_10_1007_s11033_021_06158_7 crossref_primary_10_1002_humu_23748 crossref_primary_10_1186_s43141_021_00204_4 crossref_primary_10_1073_pnas_2011511117 crossref_primary_10_1074_mcp_RA118_000720 |
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Snippet | Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of... Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the gamma -subunit of... |
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SubjectTerms | 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 |
Title | Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations |
URI | https://www.ncbi.nlm.nih.gov/pubmed/26935170 https://www.proquest.com/docview/1844734019/abstract/ https://search.proquest.com/docview/1800129092 https://search.proquest.com/docview/1808702070 |
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