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RMRP gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RMRP Gene

The RMRP gene encodes a noncoding RNA that forms part of the RNase MRP enzyme, essential for mitochondrial DNA replication, ribosomal RNA processing, and cell cycle control. Mutations in this gene cause a spectrum of skeletal disorders, including cartilage‑hair hypoplasia and anauxetic dysplasia.

Overview

Unlike many genes, the RMRP gene does not encode a protein. Instead, it produces a noncoding RNA that, together with several proteins, forms the mitochondrial RNA‑processing endoribonuclease, or RNase MRP. This enzyme is involved in mitochondrial DNA replication, ribosomal RNA processing, and regulation of the cell cycle.

Health Conditions Related to Genetic Changes

Anauxetic Dysplasia

At least four RMRP gene mutations have been identified in people with anauxetic dysplasia, a disorder characterized by severe short stature and skeletal abnormalities. The mutations alter the noncoding RNA, impairing the RNase MRP enzyme’s ribosomal RNA processing function, which likely disrupts skeletal development.

Cartilage‑Hair Hypoplasia

More than 100 mutations in the RMRP gene cause cartilage‑hair hypoplasia. Approximately 90 % of cases result from a 70A>G substitution. These mutations produce a noncoding RNA that cannot bind some RNase MRP proteins, reducing enzyme activity and leading to dwarfism, skeletal abnormalities, immune deficiency, increased cancer risk, and sparse hair.

Other Disorders

Mutations that also cause cartilage‑hair hypoplasia can lead to metaphyseal dysplasia without hypotrichosis, a milder skeletal disorder without hair changes but with possible immune deficiency and cancer risk. These conditions, along with anauxetic dysplasia, form the cartilage‑hair hypoplasia spectrum.

Other Names for This Gene

  • CHH
  • NME1
  • RMRPR
  • RRP2

Genomic Location

The RMRP gene is located on chromosome 9.

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of RMRP

Scientific Articles on PubMed

  • PubMed

Catalog of Genes and Diseases from OMIM

  • METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH
  • MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP

Gene and Variant Databases

  • NCBI Gene
  • ClinVar

References

  • Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non‑coding RMRP RNA in cartilage‑hair hypoplasia. Hum Mol Genet. 2005 Dec 1;14(23):3723‑40. doi: 10.1093/hmg/ddi403.
  • Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. RMRP mutations in cartilage‑hair hypoplasia. Am J Med Genet A. 2006 Oct 1;140(19):2121‑30. doi: 10.1002/ajmg.a.31331.
  • Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage‑hair hypoplasia. J Hum Genet. 2006;51(8):706‑710. doi: 10.1007/s10038-006-0015-3.
  • Martin AN, Li Y. RNase MRP RNA and human genetic diseases. Cell Res. 2007 Mar;17(3):219‑26. doi: 10.1038/sj.cr.7310120.
  • Ridanpaa M, Sistonen P, Rockas S, Rimoin DL, Makitie O, Kaitila I. Worldwide mutation spectrum in cartilage‑hair hypoplasia: ancient founder origin of the major70A>G mutation of the untranslated RMRP. Eur J Hum Genet. 2002 Jul;10(7):439‑47. doi: 10.1038/sj.ejhg.5200824.
  • Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Makitie O, Kaitila I, de la Chapelle A. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage‑hair hypoplasia. Cell. 2001 Jan 26;104(2):195‑203. doi: 10.1016/s0092-8674(01)00205-7.
  • 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. 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. doi: 10.1086/497708.
  • 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. doi: 10.1086/521034.
  • Thiel CT, Rauch A. The molecular basis of the cartilage‑hair hypoplasia‑anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):131‑42. doi: 10.1016/j.beem.2010.08.004.

Frequently Asked Questions

Diagnosis combines clinical evaluation (dwarfism, metaphyseal dysplasia on X‑ray, fine hair) with molecular testing. A blood sample is sent for RMRP sequencing; the classic 70A>G mutation accounts for ~90 % of cases. Some labs also perform a targeted panel for skeletal dysplasias if the phenotype is atypical.
Patients often have T‑cell lymphopenia, reduced vaccine‑induced antibody responses, and increased susceptibility to viral and bacterial infections. Management includes regular immunologic work‑up (CBC with differential, immunoglobulin levels, vaccine titers), prophylactic antibiotics for recurrent sinopulmonary infections, and, when antibody production is severely impaired, periodic intravenous immunoglobulin (IVIG). Live vaccines are generally avoided.
Growth hormone (GH) can modestly increase height velocity, but the response is usually limited because the underlying skeletal dysplasia impairs bone growth plates. A trial of GH under pediatric endocrinology supervision may be considered, but families should have realistic expectations and discuss potential side effects such as increased intracranial pressure.
Yes—especially non‑Hodgkin lymphoma and, less commonly, leukemia. Annual physical exams should include lymph node assessment and review of systemic symptoms (fevers, night sweats, weight loss). Some clinicians recommend baseline and periodic imaging (e.g., ultrasound or MRI) if there is a family history of lymphoma, and prompt evaluation of any unexplained lymphadenopathy. Immunization against oncogenic viruses (HPV, hepatitis B) is also advised.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.