Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Polypeptide N-acetylgalactosaminyltransferase 3

The gene encodes GALNT3 UDP-GalNAc which is responsible for O-glycosylation of the peptide hormone FGF23. As only O-glycosylated FGF23 can be further processed and activated while non-O-glycosylated FGF23 is degradated, inactivitong mutationd result in reduced secreted FGF23 levels. Such mutations cause autosomal recessive hyperphosphatemic familial tumoral calcinosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL

References:

1.

Steinherz R et. al. (1985) Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis.

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2.

Lyles KW et. al. (1985) Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.

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3.

Slavin RE et. al. (1993) Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.

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4.

Bennett EP et. al. (1996) cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3.

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5.

Zara J et. al. (1996) Cloning and expression of mouse UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-T3.

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6.

Bennett EP et. al. (1998) Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family.

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7.

MCPHAUL JJ et. al. (1961) Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.

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8.

Topaz O et. al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

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9.

Frishberg Y et. al. (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

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10.

Ichikawa S et. al. (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

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11.

Specktor P et. al. (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

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12.

Kato K et. al. (2006) Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.

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13.

Ichikawa S et. al. (2006) Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

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14.

Ichikawa S et. al. (2007) Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.

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15.

Barbieri AM et. al. (2007) Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.

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16.

Laleye A et. al. (2008) Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

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17.

Ichikawa S et. al. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

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Update: Sept. 26, 2018