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Schimke immunoosseous dysplasia: defining skeletal features
- Source :
- European Journal of Pediatrics, European Journal of Pediatrics, 2010, 169 (7), pp.801-811. ⟨10.1007/s00431-009-1115-9⟩, European Journal of Pediatrics, 169, 801-811. Springer-Verlag
- Publication Year :
- 2009
- Publisher :
- Springer Science and Business Media LLC, 2009.
-
Abstract
- 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.
- Subjects :
- Pathology
Genocopy
[SDV]Life Sciences [q-bio]
PROTEIN
medicine.disease_cause
Glomerulosclerosis
0302 clinical medicine
Focal segmental glomerulosclerosis
Locus heterogeneity
NEPHROTIC SYNDROME
Diagnosis
Medicine
Child
GENE-EXPRESSION
0303 health sciences
Mutation
Glomerulosclerosis, Focal Segmental
ASSOCIATION
Syndrome
3. Good health
SIBLINGS
Proteinuria
Phenotype
Sella turcica
medicine.anatomical_structure
Child, Preschool
Skeletal dysplasia
Bone and Bones/radiography
Adult
Spondyloepiphyseal dysplasia
medicine.medical_specialty
Adolescent
Osteochondrodysplasias
SPONDYLOEPIPHYSEAL DYSPLASIA
Bone and Bones
Diagnosis, Differential
Genetic Heterogeneity
03 medical and health sciences
Lymphopenia
Lymphopenia/genetics
Immunodeficiency
Humans
Pediatrics, Perinatology, and Child Health
HELICASE
Preschool
030304 developmental biology
Original Paper
business.industry
Genetic heterogeneity
DNA Helicases/genetics
DNA Helicases
Focal Segmental/genetics
Schimke immunoosseous dysplasia
medicine.disease
T cell deficiency
Radiography
Differential
Pediatrics, Perinatology and Child Health
Osteochondrodysplasias/genetics/radiography
IMMUNO-OSSEOUS DYSPLASIA
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14321076 and 03406199
- Volume :
- 169
- Database :
- OpenAIRE
- Journal :
- European Journal of Pediatrics
- Accession number :
- edsair.doi.dedup.....75061c6bbd7529a743f53f8089870c9d