ArticleJournal of clinical laboratory analysis2020
Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.
Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 8 citations in OpenAlex.
- Paediatric therapeutic development workshop on osteosarcoma.British journal of cancer · 2026Review
- ROR2 preserves alveolar bone homeostasis by orchestrating IRAK4-dependent suppression of CXCL8-driven osteolysis.Cell communication and signaling : CCS · 2026Article
- Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.Molecular genetics and genomics : MGG · 2026Article
- ROR2-Related Skeletal Dysplasia Reveals Disrupted Chondrocyte Polarity through Modulation of BMP/TGF-β Signaling.Aging and disease · 2024Article
- A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.Molecular genetics & genomic medicine · 2022Review
- Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.American journal of medical genetics. Part A · 2021Article
- Downregulation of ROR2 promotes dental pulp stem cell senescence by inhibiting STK4-FOXO1/SMS1 axis in sphingomyelin biosynthesis.Aging cell · 2021Article
- Heterozygous Recurrent Mutations Inducing Dysfunction ofFrontiers in cell and developmental biology · 2021Article
- Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).Molecular genetics & genomic medicine · 2020Article
- Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.Journal of clinical laboratory analysis · 2020Article
- WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.Frontiers in endocrinology · 2020Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAutosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones.
objectivesThe aim of this study was to investigate the genetic cause of a ARRS fetus and to evaluate the reliability of whole-exome sequencing (WES) in prenatal diagnosis on cases with indistinguishable multiple malformation.
methodsClinical and ultrasonic evaluations were conducted on the fetus, and multiplatform genetic techniques were used to identify the variation responsible for RS. The pathogenicity of the novel variation was evaluated by in silico methods. Western blotting (WB) and immunohistochemistry (IHC) were performed on fetal tissues after the fetus' stillbirth and postabortal autopsy.
resultsA compound heterozygous variation consisting c.613C > T and c.904C > T in ROR2 gene was identified. In silico prediction suggested that c.904C > T was a deleterious variant. IHC result demonstrated that ror2 expression level of the proband in osteochondral tissue significantly increased comparing with that of the control sample.
conclusionsFor the first time in Chinese population, we characterized a novel variation in ROR2 gene causing ARRS. This study extended the mutation spectrum of ARRS and provided a promising strategy for prenatal diagnosis of cases with ambiguous multiple deformities.
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