ArticlePLoS genetics2011
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 82 citations in OpenAlex.
- Cartilage-hair hypoplasia: A comprehensive review.Journal of human immunity · 2025Review
- Composition and RNA binding specificity of metazoan RNase MRP.Nucleic acids research · 2025Article
- Dynamic enhancer landscapes in human craniofacial development.Nature communications · 2024Article
- A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.Nature communications · 2022Article
- 'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.Journal of medical genetics · 2020Article
- Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.Frontiers in genetics · 2020Review
- Rpp29 regulates histone H3.3 chromatin assembly through transcriptional mechanisms.The Journal of biological chemistry · 2018Article
- Genomic Interventions in Medicine.Bioinformatics and biology insights · 2018Review
- Identification of host RNAs that interact with EBV noncoding RNA EBER2.RNA biology · 2018Article
- BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.Clinical genetics · 2017Article
- Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.Journal of genetic counseling · 2016Article
- Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.Journal of muscle research and cell motility · 2016Article
- Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.G3 (Bethesda, Md.) · 2016Article
- Footprinting analysis of interactions between the largest eukaryotic RNase P/MRP protein Pop1 and RNase P/MRP RNA components.RNA (New York, N.Y.) · 2015Article
- Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling.BMC genomics · 2015Article
- Advances in Skeletal Dysplasia Genetics.Annual review of genomics and human genetics · 2015Review
- Article
- Prehistoric genomes reveal the genetic foundation and cost of horse domestication.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Review
- The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.PLoS genetics · 2014Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a family of two healthy unrelated parents and two affected children using whole-exome sequencing. The two affected daughters have clinical and radiographic features suggestive of anauxetic dysplasia (OMIM 607095), a rare form of dwarfism caused by mutations of RMRP. However, mutations of RMRP were excluded in this family by direct sequencing. Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. We demonstrate that these mutations impair the integrity and activity of this complex and that they impair cell proliferation, providing likely molecular and cellular mechanisms by which POP1 mutations cause this severe skeletal dysplasia.
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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.