Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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.

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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