AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis (AIS) is a common spinal deformities found in adolescent populations, while Mendelian-inherited family cases are quite rare. An autosomal-dominant inherited AIS family has been investigated and one missense mutation harbored in AKAP2 gene was found. The AKAP2 gene is located in a previously reported linkage locus (IS4) on chromosome 9q31.2-q34.2, which could involve in the formation of bone anomalies. Bioinformatics prediction of this missense mutation and increased mRNA expression level in our AIS family suggest that the AKAP2 gene may play a potential role in the pathogenic way of AIS. (By Dr. Zheng-mao Hu, http://jmg.bmj.com/content/early/2016/03/17/jmedgenet-2015-103684 )