title: A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.
abstract: Brachydactyly type B1 (BDB1), an autosomal dominant condition characterized by terminal deficiency of the fingers and toes, results from mutations in the gene ROR2 encoding a receptor tyrosine kinase. In addition to BDB1, mutations in the gene ROR2 also cause a more severe form of skeletal dysplasia, autosomal recessive Robinow syndrome. The present study reports on a large Punjabi-speaking Pakistani family segregating autosomal dominant BDB1. In total, 34 individuals in this family showed features of BDB1. Sequence analysis of the gene ROR2 identified a previously reported nonsense mutation (c.2278C>T, p.Q760X) in all affected individuals of the family.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad Dera Ghazi Khan Campus, University of Education, Lahore, Pakistan.
authors.forename: Rabia
authors.initials: R
authors.lastname: Habib
authors.forename: Muhammad
authors.initials: M
authors.lastname: Amin-Ud-Din
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D019943:Amino Acid Substitution; D059327:Brachydactyly / Q000235:genetics*; D018389:Codon, Nonsense; D005799:Genes, Dominant; D006225:Hand / Q000000981:diagnostic imaging; D006579:Heterozygote; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000235:genetics; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D057050:Receptor Tyrosine Kinase-like Orphan Receptors / Q000235:genetics / Q000378:metabolism*
chemical_list: D018389:Codon, Nonsense; C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors