Περίληψη:
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.
Συγγραφείς:
Hunter, Kshamta B.
Luecke, Thomas
Spranger, Juergen and
Smithson, Sarah F.
Alpay, Harika
Andre, Jean-Luc
Asakura,
Yumi
Bogdanovic, Radovan
Bonneau, Dominique
Cairns, Robyn
and Cransberg, Karlien
Fruend, Stefan
Fryssira, Helen and
Goodman, David
Helmke, Knut
Hinkelmann, Barbara
Lama,
Guiliana
Lamfers, Petra
Loirat, Chantal
Majore, Silvia and
Mayfield, Christy
Pontz, Bertram F.
Rusu, Cristina
Saraiva,
Jorge M.
Schmidt, Beate
Shoemaker, Lawrence
Sigaudy, Sabine
and Stajic, Natasa
Taha, Doris
Boerkoel, Cornelius F.
