TY - JOUR
TI - Schimke immunoosseous dysplasia: defining skeletal features
AU - Hunter, Kshamta B.
AU - Luecke, Thomas
AU - Spranger, Juergen and
AU - Smithson, Sarah F.
AU - Alpay, Harika
AU - Andre, Jean-Luc
AU - Asakura,
AU - Yumi
AU - Bogdanovic, Radovan
AU - Bonneau, Dominique
AU - Cairns, Robyn
AU - and Cransberg, Karlien
AU - Fruend, Stefan
AU - Fryssira, Helen and
AU - Goodman, David
AU - Helmke, Knut
AU - Hinkelmann, Barbara
AU - Lama,
AU - Guiliana
AU - Lamfers, Petra
AU - Loirat, Chantal
AU - Majore, Silvia and
AU - Mayfield, Christy
AU - Pontz, Bertram F.
AU - Rusu, Cristina
AU - Saraiva,
AU - Jorge M.
AU - Schmidt, Beate
AU - Shoemaker, Lawrence
AU - Sigaudy, Sabine
AU - and Stajic, Natasa
AU - Taha, Doris
AU - Boerkoel, Cornelius F.
JO - European Journal of Pediatrics
PY - 2010
VL - 169
TODO - 7
SP - 801-811
PB - Springer-Verlag
SN - 0340-6199, 1432-1076
TODO - 10.1007/s00431-009-1115-9
TODO - Genocopy; Immunodeficiency; Proteinuria; Skeletal dysplasia; Locus
heterogeneity; Schimke immunoosseous dysplasia
TODO - 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.
ER -