Abstract
Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Base Sequence
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Calcinosis / genetics*
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Calcinosis / metabolism
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Chromosome Mapping
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Chromosomes, Human, Pair 2 / genetics
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DNA / genetics
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Female
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Gene Expression
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Genes, Recessive
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Glycosylation
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Humans
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Male
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Mucins / chemistry
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Mucins / metabolism
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Mutation*
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N-Acetylgalactosaminyltransferases / genetics*
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N-Acetylgalactosaminyltransferases / metabolism
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Neoplasm Proteins / genetics*
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Neoplasm Proteins / metabolism
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Pedigree
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Polypeptide N-acetylgalactosaminyltransferase
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Protein Processing, Post-Translational
Substances
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Mucins
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Neoplasm Proteins
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DNA
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N-Acetylgalactosaminyltransferases