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.
aDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad
bDera Ghazi Khan Campus, University of Education, Lahore, Pakistan
Correspondence to Wasim Ahmad, PhD, Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan Tel: +92 519 0643 003; fax: +92 512 6011 45; e-mail: email@example.com
Received April 14, 2012
Accepted November 8, 2012