Raine syndrome is an autosomal recessive disorder caused by mutations of the FAM20C. The disease is characterized by hypophosphatemia and osteosclerotic bone deformations and lethal within a few weeks though some reports include elderly patients with hypophosphatemia only.
Hypophosphatemia | |
In Raine syndrome hypophosphatemia is associated with sclerotic bone disease. |
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Chitayat D et al. (2007) Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. |
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Acosta AX et al. (2000) Raine dysplasia: a Brazilian case with a mild radiological involvement. |
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None (1998) Raine syndrome. |
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Al Mane KA et al. (1996) Intracranial calcification in Raine syndrome. |
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Raine J et al. (1989) Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. |
10. |
Kan AE et al. (1992) New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). |
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Patel PJ et al. (1992) Osteopetrosis: brain ultrasound and computed tomography findings. |
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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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Faundes V et al. (2014) Raine syndrome: an overview. |
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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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Liu P et al. (2014) Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice. |
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Kinoshita Y et al. (2014) Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. |
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Wang X et al. (2015) The specific role of FAM20C in dentinogenesis. |
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Vogel P et al. (2012) Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. |
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Hao J et al. (2007) Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation. |
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Nalbant D et al. (2005) FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. |
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Tagliabracci VS et al. (2012) Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. |
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Fradin M et al. (2011) Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. |
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Simpson MA et al. (2009) Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. |
24. |
Simpson MA et al. (2007) Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. |
25. |
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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Kingston HM et al. (1991) A new lethal sclerosing bone dysplasia. |
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Orphanet article Orphanet ID 1832 |
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OMIM.ORG article Omim 259775 |
29. |
Wikipedia article Wikipedia EN (Raine_syndrome) |