Autosomal recessive disease.
Synopsis
severely disproportionate short stature
hypertelorism
hypodontia
cervical subluxation
J-shaped sella
platyspondyly
cervical subluxation
hypoplastic ilia
slanting acetabular roots
rhizomelic shortening
metaphyseal flaring
small epiphyses
brachydactyly
delayed carpal bone age
brachydactyly
cervical cord compression
mental retardation
Morphology
Abnormal columnization of chondrocytes
Dilated rough endoplasmic reticulum (RER)
Pathology
germline mutations of RMRP in anauxetic dysplasia
- The mitochondrial RNA-processing endoribonuclease is a ribonucleoprotein whose RNA component RMRP is a nuclear gene product.
- The RNA component RMRP is the first RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RNRP gene is untranslated, i.e., it encodes an RNA not a protein.
- Mitochondrial RNA-processing endoribonuclease cleaves mitochondrial RNA complementary to the light chain of the displacement loop at a unique site.
See also
allelic disorders
- cartilage-hair hypoplasia (MIM.250250)
- metaphyseal dysplasia without hypotrichosis (MIM.250460)
- anauxetic dysplasia (MIM.607095)
References
Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007 Sep;81(3):519-29. PMID: 17701897