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Schimke immunoosseous dysplasia: defining skeletal features
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,...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876264/ https://www.ncbi.nlm.nih.gov/pubmed/20013129 http://dx.doi.org/10.1007/s00431-009-1115-9 |
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author | Hunter, Kshamta B. Lücke, Thomas Spranger, Jürgen Smithson, Sarah F. Alpay, Harika André, Jean-Luc Asakura, Yumi Bogdanovic, Radovan Bonneau, Dominique Cairns, Robyn Cransberg, Karlien Fründ, Stefan Fryssira, Helen Goodman, David Helmke, Knut Hinkelmann, Barbara Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia Mayfield, Christy Pontz, Bertram F. Rusu, Cristina Saraiva, Jorge M. Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine Stajic, Natasa Taha, Doris Boerkoel, Cornelius F. |
author_facet | Hunter, Kshamta B. Lücke, Thomas Spranger, Jürgen Smithson, Sarah F. Alpay, Harika André, Jean-Luc Asakura, Yumi Bogdanovic, Radovan Bonneau, Dominique Cairns, Robyn Cransberg, Karlien Fründ, Stefan Fryssira, Helen Goodman, David Helmke, Knut Hinkelmann, Barbara Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia Mayfield, Christy Pontz, Bertram F. Rusu, Cristina Saraiva, Jorge M. Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine Stajic, Natasa Taha, Doris Boerkoel, Cornelius F. |
author_sort | Hunter, Kshamta B. |
collection | PubMed |
description | 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00431-009-1115-9) contains supplementary material, which is available to authorized users. |
format | Text |
id | pubmed-2876264 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Springer-Verlag |
record_format | MEDLINE/PubMed |
spelling | pubmed-28762642010-06-10 Schimke immunoosseous dysplasia: defining skeletal features Hunter, Kshamta B. Lücke, Thomas Spranger, Jürgen Smithson, Sarah F. Alpay, Harika André, Jean-Luc Asakura, Yumi Bogdanovic, Radovan Bonneau, Dominique Cairns, Robyn Cransberg, Karlien Fründ, Stefan Fryssira, Helen Goodman, David Helmke, Knut Hinkelmann, Barbara Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia Mayfield, Christy Pontz, Bertram F. Rusu, Cristina Saraiva, Jorge M. Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine Stajic, Natasa Taha, Doris Boerkoel, Cornelius F. Eur J Pediatr Original Paper 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00431-009-1115-9) contains supplementary material, which is available to authorized users. Springer-Verlag 2009-12-15 2010 /pmc/articles/PMC2876264/ /pubmed/20013129 http://dx.doi.org/10.1007/s00431-009-1115-9 Text en © The Author(s) 2009 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
spellingShingle | Original Paper Hunter, Kshamta B. Lücke, Thomas Spranger, Jürgen Smithson, Sarah F. Alpay, Harika André, Jean-Luc Asakura, Yumi Bogdanovic, Radovan Bonneau, Dominique Cairns, Robyn Cransberg, Karlien Fründ, Stefan Fryssira, Helen Goodman, David Helmke, Knut Hinkelmann, Barbara Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia Mayfield, Christy Pontz, Bertram F. Rusu, Cristina Saraiva, Jorge M. Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine Stajic, Natasa Taha, Doris Boerkoel, Cornelius F. Schimke immunoosseous dysplasia: defining skeletal features |
title | Schimke immunoosseous dysplasia: defining skeletal features |
title_full | Schimke immunoosseous dysplasia: defining skeletal features |
title_fullStr | Schimke immunoosseous dysplasia: defining skeletal features |
title_full_unstemmed | Schimke immunoosseous dysplasia: defining skeletal features |
title_short | Schimke immunoosseous dysplasia: defining skeletal features |
title_sort | schimke immunoosseous dysplasia: defining skeletal features |
topic | Original Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876264/ https://www.ncbi.nlm.nih.gov/pubmed/20013129 http://dx.doi.org/10.1007/s00431-009-1115-9 |
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