Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Tyrosine-Protein-Kinase transmembranöser Rezeptor ROR2

Das ROR2-Gen kodiert einen Tyrosinkinase, die als membranständiger Rezeptor bei der Steuerung von Knochen- und Knorpelbildung beteiligt ist. Mutationen führen zum autosomal rezessiven Robinow-Syndrom und zu dominanter Brachydaktylie Typ B1.

Diagnostik:

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

Krankheiten:

Brachydaktylie Typ B1
ROR2
autosomal rezessives Robinow-Syndrom
ROR2

Referenzen:

1.

Oishi I et. al. (2003) The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.

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2.

Mikels AJ et. al. (2006) Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.

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3.

None (1979) Hereditary brachydactyly with nail dysplasia.

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4.

None (1978) Hereditary brachydactyly with nail dysplasia.

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5.

Masiakowski P et. al. (1992) A novel family of cell surface receptors with tyrosine kinase-like domain.

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6.

Innis JW et. al. (1998) Limb development: molecular dysmorphology is at hand!

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7.

Deloukas P et. al. (1998) A physical map of 30,000 human genes.

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8.

Oldridge M et. al. (1999) Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.

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9.

Oishi I et. al. (1999) Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system.

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10.

Manouvrier-Hanu S et. al. (1999) Genetics of limb anomalies in humans.

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11.

Takeuchi S et. al. (2000) Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation.

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12.

DeChiara TM et. al. (2000) Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development.

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13.

Oldridge M et. al. (2000) Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

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14.

Afzal AR et. al. (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

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15.

van Bokhoven H et. al. (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

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16.

Schwabe GC et. al. (2000) Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

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17.

Nomi M et. al. (2001) Loss of mRor1 enhances the heart and skeletal abnormalities in mRor2-deficient mice: redundant and pleiotropic functions of mRor1 and mRor2 receptor tyrosine kinases.

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18.

van Bokhoven H et. al. (2002) Splitting p63.

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19.

Afzal AR et. al. (2003) One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

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20.

Bacchelli C et. al. (2003) ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.

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21.

Schwabe GC et. al. (2004) Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.

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22.

Tufan F et. al. (2005) Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

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23.

Chen Y et. al. (2005) ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

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24.

Hamamy H et. al. (2006) Brachydactyly type B1: report of a family with de novo ROR2 mutation.

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25.

Ali BR et. al. (2007) Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

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26.

Brunetti-Pierri N et. al. (2008) Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

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27.

Lv D et. al. (2009) A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

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28.

Kjaer KW et. al. (2009) A novel subtype of distal symphalangism affecting only the 4th finger.

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29.

Schwarzer W et. al. (2009) A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.

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Update: 31. März 2018