ArticleClinical genetics2019
QRICH1 mutations cause a chondrodysplasia with developmental delay.
Article in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- A novelFrontiers in neuroscience · 2026Article
- QRICH1 mediates an intracellular checkpoint for CD8Science immunology · 2025Article
- QRICH1 suppresses pediatric T-cell acute lymphoblastic leukemia by inhibiting GRP78.Cell death & disease · 2024Article
- Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.JAMA neurology · 2023Article
- A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.Molecular genetics & genomic medicine · 2023Article
- Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene.The American journal of case reports · 2023Article
- Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic.Frontiers in genetics · 2021Article
- QRICH1 dictates the outcome of ER stress through transcriptional control of proteostasis.Science (New York, N.Y.) · 2021Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
In many children with short stature, the etiology of the decreased linear growth remains unknown. We sought to identify the underlying genetic etiology in a patient with short stature, irregular growth plates of the proximal phalanges, developmental delay, and mildly dysmorphic facial features. Exome sequencing identified a de novo, heterozygous, nonsense mutation (c.1606C>T:p.R536X) in QRICH1. In vitro studies confirmed that the mutation impaired expression of the QRICH1 protein. SiRNA-mediated knockdown of Qrich1 in primary mouse epiphyseal chondrocytes caused downregulation of gene expression associated with hypertrophic differentiation. We then identified an unrelated individual with another heterozygous de novo nonsense mutation in QRICH1 who had a similar phenotype. A recently published study identified QRICH1 mutations in three patients with developmental delay, one of whom had short stature. Our findings indicate that QRICH1 mutations cause not only developmental delay but also a chondrodysplasia characterized by diminished linear growth and abnormal growth plate morphology due to impaired growth plate chondrocyte hypertrophic differentiation.
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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.