Anauxetic dysplasia (AD) is a spondylometaepiphyseal dysplasia with extreme dwarfism. Mutations in the RMRP gene that codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently, mutations in POP1 have been described in a few affected individuals. POP1 is a protein subunit of the MRP RNase complex.
Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Ruschendorf F, Sticht H, Spranger J, Muller D, Zweier C, Schmitt ME, Reis A, Rauch A
タイトル
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Barraza-Garcia J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchon-Martinez A, Sentchordi-Montane L, Duncan EL, Clark GR, Del Pozo A, Ibanez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE
タイトル
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
