Chondrodysplasia with joint dislocations, GPAPP type is characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused by mutations in IMPAD1, the gene encoding Golgi-resident PAP phosphatase (gPAPP). IMPAD1 inactivation has been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation.
Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafe L, Veltman JA, Zabel B, Superti-Furga A
タイトル
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
