ArticlePLoS genetics2005
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Article in PLoS genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 71 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
- RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.Molecular medicine reports · 2025Article
- Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.Scientific reports · 2024Article
- Long Non-Coding RNA Signatures in Lymphopoiesis and Lymphoid Malignancies.Non-coding RNA · 2023Review
- Physiological Systems in Promoting Frailty.Comprehensive Physiology · 2022Review
- Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.Frontiers in immunology · 2022Article
- Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.Frontiers in immunology · 2022Article
- LNCRNA XIST Inhibits miR-377-3p to Hinder Th17 Cell Differentiation through Upregulating ETS1.Computational intelligence and neuroscience · 2022Article
- Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (Annals of laboratory medicine · 2021Article
- LncRNAs and Immunity: Coding the Immune System with Noncoding Oligonucleotides.International journal of molecular sciences · 2021Review
- Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.Frontiers in immunology · 2021Article
- Identification of Novel and RecurrentMolecular syndromology · 2020Article
- Posttranscriptional regulation of T helper cell fate decisions.The Journal of cell biology · 2018Review
- A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.Frontiers in immunology · 2018Article
- Disruption of Thrombocyte and T Lymphocyte Development by a Mutation inJournal of immunology (Baltimore, Md. : 1950) · 2017Article
- Gene regulation in the immune system by long noncoding RNAs.Nature immunology · 2017Review
- Dis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAs.Cell reports · 2016Article
- Article
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Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of cancer. Molecular diagnosis of CHH has implications for management, prognosis, follow-up, and genetic counseling of affected patients and their families. We report 20 novel mutations in 36 patients with CHH and describe the associated phenotypic spectrum. Given the high mutational heterogeneity (62 mutations reported to date), the high frequency of variations in the region (eight single nucleotide polymorphisms in and around RMRP), and the fact that RMRP is not translated into protein, prediction of mutation pathogenicity is difficult. We addressed this issue by a comparative genomic approach and aligned the genomic sequences of RMRP gene in the entire class of mammals. We found that putative pathogenic mutations are located in highly conserved nucleotides, whereas polymorphisms are located in non-conserved positions. We conclude that the abundance of variations in this small gene is remarkable and at odds with its high conservation through species; it is unclear whether these variations are caused by a high local mutation rate, a failure of repair mechanisms, or a relaxed selective pressure. The marked diversity of mutations in RMRP and the low homozygosity rate in our patient population indicate that CHH is more common than previously estimated, but may go unrecognized because of its variable clinical presentation. Thus, RMRP molecular testing may be indicated in individuals with isolated metaphyseal dysplasia, anemia, or immune dysregulation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.