Anauxetic dysplasia

Definition:

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.

References:

[1]. Christian T Thiel, et al. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet. 2005 Nov;77(5):795-806. [Content Brief]

[2]. D Horn, et al. Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. J Med Genet. 2001 Apr;38(4):262-5. [Content Brief]

[3]. Dhanya L Narayanan, et al. An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. Am J Med Genet A. 2019 Sep;179(9):1709-1717. [Content Brief]

[4]. J Barraza-García, et al. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. Clin Genet. 2017 Jul;92(1):91-98. [Content Brief]

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