Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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.

Gentests:

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

Verknüpfte Erkrankungen:

Brachydaktylie Typ B1
ROR2
autosomal rezessives Robinow-Syndrom
ROR2

Referenzen:

1.

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

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2.

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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3.

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

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4.

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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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

None (1978) Hereditary brachydactyly with nail dysplasia.

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13.

None (1979) Hereditary brachydactyly with nail dysplasia.

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14.

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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15.

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

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16.

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

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17.

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

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18.

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

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19.

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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20.

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

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21.

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

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22.

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

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23.

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

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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26.

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

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27.

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

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28.

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

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29.

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

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30.

NCBI article

NCBI 4920 external link
31.

OMIM.ORG article

Omim 602337 external link
32.

Orphanet article

Orphanet ID 118362 external link
Update: 14. August 2020
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