A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report

Shuaimei Liu,Xinyi Xia,Mingchao Zhang,Peiran Zhu,Mengxia Ni

doi:10.1186/s12887-017-0968-8

Shuaimei Liu, Xinyi Xia + Show 3 more

Open Access

https://doi.org/10.1186/s12887-017-0968-8

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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 presentationThe 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.

Highlights

Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features
Schimke immunoosseous dysplasia (SIOD) manifests in approximately 50% of patients due to mutations in the SMARCAL1 gene
The SMARCAL1 gene is located on chromosome 2q34-q36, and contains 18 exons

Summary

Introduction

Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SIOD manifests in approximately 50% of patients due to mutations in the SMARCAL1 gene. SIOD disease severity is determined by different types of SMARCAL1 mutations. SIOD patients with a severe phenotype typically die before the age of five and are characterized by osseous dysplasia, hypermicrosoma, special facial dysmorphism, and T cell deficiency caused by repeated infection and chromosomal fragility [14].

Results

Conclusion