Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Extracellular serine/threonine protein kinase FAM20C

The FAMC20 gene encodes a secreted protein kinase that plays an important role in phosphate metabolism. Mutations cause autosomal recessive Raine syndrome.

Genetests:

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

Related Diseases:

Raine syndrome
FAM20C

References:

1.

Kingston HM et. al. (1991) A new lethal sclerosing bone dysplasia.

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2.

Al-Gazali LI et. al. (2003) Further delineation of Raine syndrome.

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3.

Hülskamp G et. al. (2003) Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome.

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4.

Nalbant D et. al. (2005) FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.

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5.

Hao J et. al. (2007) Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation.

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6.

Simpson MA et. al. (2007) Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

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7.

Simpson MA et. al. (2009) Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

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8.

Fradin M et. al. (2011) Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

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9.

Tagliabracci VS et. al. (2012) Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.

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10.

Vogel P et. al. (2012) Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.

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11.

Wang X et. al. (2015) The specific role of FAM20C in dentinogenesis.

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12.

Kinoshita Y et. al. (2014) Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.

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13.

Liu P et. al. (2014) Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.

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14.

Acevedo AC et. al. (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

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15.

Faundes V et. al. (2014) Raine syndrome: an overview.

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16.

Takeyari S et. al. (2014) Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

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Update: Sept. 26, 2018