Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently, involved genes (MEOX1 and MYO18B) have been identified.
Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ
タイトル
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
