A Novel NOG Variant Causes Brachydactyly Type B2: A Case Report

Abstract

Background: Brachydactyly type B2 (BDB2) is a very rare form of brachydactyly, characterized by hypoplasia or aplasia of the middle to distal phalanges of fingers and/or toes in combination with distal symphalangism. It is caused by dominant mutations in the NOG gene encoding noggin protein. Case presentation:In the present study, we report a Tunisian family composed of three affected subjects showing varying degrees of BDB2. We performed a direct sequencing of NOG, and we identified a novel missense heterozygous mutation c.503T>C (p.F168S), which is likely pathogenic according to the prediction programs. This new variation enlarges the mutation spectrum of the NOG gene. Conclusion:To the best of our knowledge, this is the first molecular study of BDB2 in Tunisian family.