ArticleBMC pediatrics2017
A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report.
Article in BMC pediatrics, 2017. 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, 10 citations in OpenAlex.
- Clinical, Radiologic, and Genetic Spectrum of Schimke Immuno-Osseous Dysplasia.Balkan medical journal · 2026Article
- Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Comparison of long-term height and pubertal outcomes in boys with delayed puberty due to constitutional delay in growth and puberty (CDGP) and isolated hypogonadotropic hypogonadism (iHH).European journal of pediatrics · 2025Article
- Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical FindingsJournal of clinical research in pediatric endocrinology · 2025Article
- Schimke immuno-osseous dysplasia. A case report in Colombia.Molecular genetics and metabolism reports · 2023Article
- T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent.Frontiers in immunology · 2022Article
- A novel compound heterozygous variant inThe Journal of international medical research · 2021Article
- Whole Exome Sequencing Identified a Novel BiallelicFrontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundSchimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. CASE PRESENTATION: The case presented here is that of a 6-year-old boy who was born at 33 weeks to healthy, non-consanguineous Chinese parents. He presented with short stature (95 cm; <3rd percentile) and proteinuria. Initially suspected of having IgM nephropathy, the patient was finally diagnosed with mild Schimke immune-osseous dysplasia. One novel mutation (p.R817H) and one well-known mutation (p.R645C) was identified in the SMARCAL1 gene.
conclusionThis report describes a clinical and genetic diagnostic model of mild SIOD. It also highlights the importance of molecular testing or clinical diagnosis and the guidance it provides in disease prognosis.
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