ArticleCase reports in genetics2016
Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5.
Article in Case reports in genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- WNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction.BMC oral health · 2025Article
- Osteoporosis and Bone Fragility in Children: Diagnostic and Treatment Strategies.Journal of clinical medicine · 2024Review
- Review
- Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report.International journal of endocrinology and metabolism · 2022Article
- Emerging insights into the comparative effectiveness of anabolic therapies for osteoporosis.Nature reviews. Endocrinology · 2021Review
- Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing.Oncology research · 2020Article
- BMP4 mutations in tooth agenesis and low bone mass.Archives of oral biology · 2019Article
- Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss. We describe a case of OPPG due to novel mutation in LRP5 gene, occurring in a female Mauritanian child. This 10-year-old female child was born blind, and after then multiple fragility fractures appeared. PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c.2270G>A; pTrP757(⁎)); this mutation leads to the production of a truncated protein containing 757 amino acids instead of 1615, located in the third β-propeller domain of the LRP5 protein. Both parents were heterozygous for the mutation. This is the first case of the OPPG described in black Africans, which broadens the spectrum of LRP5 gene mutations in OPPG.
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Registered trials
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.