A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B

作者：Habib Rabia; Amin ud Din Muhammad; Ahmad Wasim^*

来源：Clinical Dysmorphology, 2013, 22(2): 47-50.

DOI：10.1097/MCD.0b013e32835c6c8c

• brachydactyly
• nail dysplasia
• nonsense mutation
• ROR2

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%26gt;T, p.Q760X) in all affected individuals of the family.

• 出版日期2013-4