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,...
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Published in | European journal of pediatrics Vol. 169; no. 7; pp. 801 - 811 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Berlin/Heidelberg
Springer-Verlag
01.07.2010
Springer Springer Nature B.V Springer Verlag [1975-....] |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1 PMCID: PMC2876264 |
ISSN: | 0340-6199 1432-1076 |
DOI: | 10.1007/s00431-009-1115-9 |