ArticleAmerican journal of human genetics2007
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 93 citations in OpenAlex.
- Expanding the Clinical and Molecular Spectrum of Cartilage-Hair Hypoplasia in the Mexican Population.International journal of molecular sciences · 2026Article
- Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia.JCEM case reports · 2026Article
- Cartilage-hair hypoplasia: A comprehensive review.Journal of human immunity · 2025Review
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
- RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.Molecular medicine reports · 2025Article
- Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.The journal of allergy and clinical immunology. Global · 2024Article
- Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.Journal of clinical immunology · 2023Article
- Prenatal Cases Reflect the Complexity of theGenes · 2022Article
- A novel experimental approach for the selective isolation and characterization of human RNase MRP.RNA biology · 2022Article
- Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts.Non-coding RNA research · 2021Article
- Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.Journal of clinical immunology · 2021Article
- How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.Cells · 2020Review
- Identification of Novel and RecurrentMolecular syndromology · 2020Article
- 'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.Journal of medical genetics · 2020Article
- Rare ribosomopathies: insights into mechanisms of cancer.Nature reviews. Cancer · 2019Review
- A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.Frontiers in immunology · 2019Article
- A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.Frontiers in immunology · 2018Article
- Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.The Journal of allergy and clinical immunology · 2017Article
- ZSCAN5B and primate-specific paralogs bind RNA polymerase III genes and extra-TFIIIC (ETC) sites to modulate mitotic progression.Oncotarget · 2016Article
- Dis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAs.Cell reports · 2016Article
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Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis and cartilage hair hypoplasia (CHH) to the severe anauxetic dysplasia (AD). This clinical spectrum includes different degrees of short stature, hair hypoplasia, defective erythrogenesis, and immunodeficiency. The RMRP gene encodes the untranslated RNA component of the mitochondrial RNA-processing ribonuclease, RNase MRP. We recently demonstrated that mutations may affect both messenger RNA (mRNA) and ribosomal RNA (rRNA) cleavage and thus cell-cycle regulation and protein synthesis. To investigate the genotype-phenotype correlation, we analyzed the position and the functional effect of 13 mutations in patients with variable features of the CHH-AD spectrum. Those at the end of the spectrum include a novel patient with anauxetic dysplasia who was compound heterozygous for the null mutation g.254_263delCTCAGCGCGG and the mutation g.195C-->T, which was previously described in patients with milder phenotypes. Mapping of nucleotide conservation to the two-dimensional structure of the RMRP gene revealed that disease-causing mutations either affect evolutionarily conserved nucleotides or are likely to alter secondary structure through mispairing in stem regions. In vitro testing of RNase MRP multiprotein-specific mRNA and rRNA cleavage of different mutations revealed a strong correlation between the decrease in rRNA cleavage in ribosomal assembly and the degree of bone dysplasia, whereas reduced mRNA cleavage, and thus cell-cycle impairment, predicts the presence of hair hypoplasia, immunodeficiency, and hematological abnormalities and thus increased cancer risk.
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