Περίληψη:
Described for the first time in 1971, Schimke immuno-osseous dysplasia
(SIOD) is an autosomal-recessive multisystem disorder that is caused by
bi-allelic mutations of SMARCAL1, which encodes a DNA annealing
helicase. To define better the dental anomalies of SIOD, we reviewed the
records from SIOD patients with identified bi-allelic SMARCAL1
mutations, and we found that 66.0% had microdontia, hypodontia, or
malformed deciduous and permanent molars. Immunohistochemical analyses
showed expression of SMARCAL1 in all developing teeth, raising the
possibility that the malformations are cell-autonomous consequences of
SMARCAL1 deficiency. We also found that stimulation of cultured skin
fibroblasts from SIOD patients with the tooth morphogens WNT3A, BMP4,
and TGF beta 1 identified altered transcriptional responses, raising the
hypothesis that the dental malformations arise in part from altered
responses to developmental morphogens. To the best of our knowledge,
this is the first systematic study of the dental anomalies associated
with SIOD.
Συγγραφείς:
Morimoto, M.
Kerouredan, O.
Gendronneau, M.
Shuen, C. and
Baradaran-Heravi, A.
Asakura, Y.
Basiratnia, M.
Bogdanovic,
R.
Bonneau, D.
Buck, A.
Charrow, J.
Cochat, P. and
DeHaai, K. A.
Fenkci, M. S.
Frange, P.
Fruend, S. and
Fryssira, H.
Keller, K.
Kirmani, S.
Kobelka, C.
Kohler,
K.
Lewis, D. B.
Massella, L.
McLeod, D. R.
Milford, D.
V.
Nobili, F.
Olney, A. H.
Semerci, C. N.
Stajic, N. and
Stein, A.
Taque, S.
Zonana, J.
Luecke, T.
Hendson, G.
and Bonnaure-Mallet, M.
Boerkoel, C. F.
