Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tyrosine-protein kinase transmembrane receptor ROR2

The ROR2 gene encodes tyrosin kinase that is in volved in intersellular signal transduction controlling skeletal development. Mutations cause autosomal recessive Robinow syndrome and dominant brachydactyly type B1.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Brachydactyly type B1
ROR2
Autosomal recessive Robinow syndrome
ROR2

References:

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: Sept. 26, 2018