A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B

Klippel-Feil anomaly (KFA) is a rare disorder encompassing fusion of the cervical spine, as well as low posterior hair line and limited neck mobility. Here we describe a mutation in a novel gene, MYO18B, which results in KFA along with muscular weakness. This is an association that has never been reported before. High resolution microscopy reveals damage to the muscle filaments. The syndrome also results in a characteristic facial appearance which will be beneficial in identifying future cases. The mutation is predicted to cause truncation of the resulting protein, and RNA from this gene is virtually absent in the patients. (By Dr. Fowzan S Alkuraya, http://jmg.bmj.com/content/early/2015/03/06/jmedgenet-2014-102964 )

(Visited 60 times, 1 visits today)