BACKGROUND:PIEZO1 and PIEZO2 are mechanosensitive ion channel proteins; in humans, they encoded by genes with identical names. PIEZO proteins convert mechanical signals into biochemical cellular responses following transduction. Recent data highlight the importance of this family regulation physiological processes; however, many mechanisms remain unknown. Modern studies have proven thatPIEZO2mu...

arthrogriposis is a disorder in which two or more joints in more than one limb of body, place in a stable position and malformation status that usually is the result of joints' immobilization during fetal period. problems resulting from this congenital deficit can occur in difference places, in upper and lower limbs, trunk, and even in face. it occurs in 3 of 1000 births, in two-third of t...

Freeman-Sheldon syndrome (FSS) is a rare form of multiple congenital contracture syndrome and is the most severe form of distal arthrogryposis. Described in 1938 by Freeman and Sheldon, it is also referred to as distal arthrogryposis type 2A, craniocarpotarsal dysplasia or whistling faceewindmill vane hand syndrome. Its main form of inheritance is autosomal dominant, but it can also be autosoma...

The proximal 15q11-q13 region contains 5 breakpoints (BP1-BP5). The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays,...

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, p...

BACKGROUND The reported incidence of scoliosis in arthrogryposis varies from 30% to 67% and, in most cases, the curves progress rapidly and become stiff from early age.The authors report six cases of scoliosis in arthrogryposis to assess the role of surgical treatment. METHODS Six cases (3 males, 3 females; mean age at surgery 13.2 years) with arthrogryposis multiplex congenita associated wit...

Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the limbs and at least ten different DAs have been described to date. DAs are mostly described as autosomal dominant disorders with variable expressivity and incomplete penetrance, but recently autosomal recessive pattern was reported in distal arthrogryposis type 5D. Mutations in the contractile genes ...

Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is expressed predominantly in slow-twitch muscle fibers. Human MYBPC1 mutations are associated with distal arthrogryposis type 1 and lethal congenital contracture syndrome type 4. As MYBPC1 function is incompletely understood, the mechanism by which human mutations result in contractures is unknown. Here, we demonstr...