Schimke immunoosseous dysplasia: Defining skeletal features

Kshamta B. Hunter, Thomas Lücke, Jürgen Spranger, Sarah F. Smithson, Harika Alpay, Jean Luc André, Yumi Asakura, Radovan Bogdanovic, Dominique Bonneau, Robyn Cairns, Karlien Cransberg, Stefan Fründ, Helen Fryssira, David Goodman, Knut Helmke, Barbara Hinkelmann, Guiliana Lama, Petra Lamfers, Chantal Loirat, Silvia MajoreChristy Mayfield, Bertram F. Pontz, Cristina Rusu, Jorge M. Saraiva, Beate Schmidt, Lawrence Shoemaker, Sabine Sigaudy, Natasa Stajic, Doris Taha, Cornelius F. Boerkoel

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.

Original languageEnglish
Pages (from-to)801-811
Number of pages11
JournalEuropean Journal of Pediatrics
Issue number7
StatePublished - Jul 2010


  • Genocopy
  • Immunodeficiency
  • Locus heterogeneity
  • Proteinuria
  • Schimke immunoosseous dysplasia
  • Skeletal dysplasia


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