TY - JOUR T1 - A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in <em>MYO18B</em> JF - Journal of Medical Genetics JO - J Med Genet SP - 400 LP - 404 DO - 10.1136/jmedgenet-2014-102964 VL - 52 IS - 6 AU - Anas M Alazami AU - Amal Y Kentab AU - Eissa Faqeih AU - Jawahir Y Mohamed AU - Hisham Alkhalidi AU - Hadia Hijazi AU - Fowzan S Alkuraya Y1 - 2015/06/01 UR - http://jmg.bmj.com/content/52/6/400.abstract N2 - Background Klippel-Feil anomaly (KFA) can be seen in a number of syndromes. We describe an apparently novel syndromic association with KFA.Methods Clinical phenotyping of two consanguineous families followed by combined autozygome/exome analysis.Results Two patients from two apparently unrelated families shared a strikingly similar phenotype characterised by KFA, myopathy, mild short stature, microcephaly, and distinctive facies. They shared a single founder autozygous interval in which whole exome sequencing revealed a truncating mutation in MYO18B. There was virtually complete loss of the transcript in peripheral blood, indicative of nonsense-mediated decay. Electron microscopy of muscle confirms abnormal myosin filaments with accompanying myopathic changes.Conclusions Deficiency of MYO18B is linked to a novel developmental disorder which combines KFA with myopathy. This suggests a widespread developmental role for this gene in humans, as observed for its murine ortholog. ER -