Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-08

AUTHORS

Ali R. Afzal, Anna Rajab, Christiane D. Fenske, Michael Oldridge, Navaratnam Elanko, Eliana Ternes-Pereira, Beyhan Tüysüz, Victoria A. Murday, Michael A. Patton, Andrew O.M. Wilkie, Steve Jeffery

ABSTRACT

The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance. We previously mapped the gene mutated in RRS to chromosome 9q22 (ref. 4), a region that overlaps the locus for autosomal dominant brachydactyly type B (refs 5,6). The recent identification of ROR2, encoding an orphan receptor tyrosine kinase, as the gene mutated in brachydactyly type B (BDB1; ref. 7) and the mesomelic dwarfing in mice homozygous for a lacZ and/or a neo insertion into Ror2 (refs 8,9) made this gene a candidate for RRS. Here we report homozygous missense mutations in both intracellular and extracellular domains of ROR2 in affected individuals from 3 unrelated consanguineous families, and a nonsense mutation that removes the tyrosine kinase domain and all subsequent 3' regions of the gene in 14 patients from 7 families from Oman. The nature of these mutations suggests that RRS is caused by loss of ROR2 activity. The identification of mutations in three distinct domains (containing Frizzled-like, kringle and tyrosine kinase motifs) indicates that these are all essential for ROR2 function. More... »

PAGES

ng0800_419

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/78107

DOI

http://dx.doi.org/10.1038/78107

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1006026275

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10932186


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/78107'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/78107'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/78107'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/78107'


 

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