Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Extrazelluläre Serin/Threonin-Protein-Kinase FAM20C

Das FAM20C-Gen kodiert eine sezernierte Proteinkinase, welche eine Bedeutung in der Steuerung des Phosphatstoffwechsels besitzt. Mutationen sind für das autosomal rezessive Raine-Syndrom verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Raine-Syndrome
FAM20C

Referenzen:

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.

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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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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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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17.

NCBI article

NCBI 56975 [^]
18.

OMIM.ORG article

Omim 611061 [^]
19.

Orphanet article

Orphanet ID 138509 [^]
Update: 29. April 2019