MBTPS1 Related Disorders Research Group

MBTPS1-related disorders are a group of very rare genetic disorders related with protein transporting defects within cells. As a result, abnormally accumulated macromolecules cause cellular stresses and skeletal defects where accumulation occurs. Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) is inherited as an autosomal recessive genetic disorder caused by mutation in MBTPS1 gene. Affected individuals have low birth weight and their growth milestones are delayed. Abnormal bone development progresses through childhood which results in short stature, curvature of the spine and characteristic facial features. Common nonskeletal symptoms include early onset of cataracts, inguinal hernia and feeding difficulties in early childhood. We aim to identify more patients so that in the near future improved diagnosis, treatment and even disease prevention become a reality. We would like to enable connections between patients and their families with physicians and scientists to work together to achieve these goals.