VATIS UPDATE Article

An international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized by facial weakness, a small or retracted chin, a cleft palate and curvature of the spine (scoliosis), among other symptoms. The researchers determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker.

This protein is necessary for the fusion of muscle cells (myoblasts) into muscle fibers (myotubes) during the development of an embryo and the regeneration of muscle cells after injury. “This discovery will improve physicians’ ability to diagnose this disease and offer families accurate genetic counseling and treatment,” said Irini Manoli, at the National Human Genome Research Institute (NHGRI), part of NIH, the United States.

People affected with CFZS have sometimes been misdiagnosed with Moebius syndrome, another very rare disorder characterized by facial paralysis. Dr. Manoli said that uncovering that cell-cell fusion deficits can lead to congenital myopathies (inherited muscle disease) opens a new path of exploration for therapies for CFZS and other muscular diseases and tools for regenerating muscle.

In addition to NHGRI, study collaborators included researchers at the National Institute of Neurological Disorders and Stroke (NINDS), the NIH Clinical Center, the United States, the Boston Children’s Hospital affiliated with Harvard University, the United States, Icahn School of Medicine, the United States, the University of Utah, the United States, and the University of Otago, New Zealand.