Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Raine-Syndrome

Das Raine-Syndrome ist eine autosomal rezessive Erkrankung, die durch Mutationen im FAM20C-Gen hervorgerufen wird. Die Erkrankung ist charakterisiert durch Hypophosphatämie und osteosklerotische Knochendysplasie. Aufgrund der schweren Störungen sind die Erkrankten oft nur wenige Wochen lebensfähig. Ältere Erkrankte, die nur durch ihre Hypophosphatämie auffielen sind aber auch beschrieben worden.

Symptome

Hypophosphatämie
Beim Raine-Syndrom ist die Hypophosphatämie mit einer sklerotischen Knochenerkrankung vergesellschaftet.

Gliederung

Hypophosphatämische Knochen- und Nierenerkrankung
FGF23-induzierte hypophosphatämische Rachitis
Hypophosphatämische Rachitis mit Hyperparathyroidismus
Hypophosphatämische Rachitis vom Fanconi-Typ
Osteoglophone Dysplasie
Raine-Syndrome
FAM20C
Störungen der renalen Phosphattransporter

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
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.

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
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.

[^]
17.

Patel PJ et. al. (1992) Osteopetrosis: brain ultrasound and computed tomography findings.

[^]
18.

Kan AE et. al. (1992) New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).

[^]
19.

Raine J et. al. (1989) Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

[^]
20.

Al Mane KA et. al. (1996) Intracranial calcification in Raine syndrome.

[^]
21.

FitzPatrick DR et. al. (1998) Clinical phenotype of desmosterolosis.

[^]
22.

None (1998) Raine syndrome.

[^]
23.

Shalev SA et. al. (1999) Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

[^]
24.

Acosta AX et. al. (2000) Raine dysplasia: a Brazilian case with a mild radiological involvement.

[^]
25.

Mahafza T et. al. (2001) Raine syndrome: report of a case with hand and foot anomalies.

[^]
26.

Chitayat D et. al. (2007) Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

[^]