@article{3550f5adc3524861bdc87b8290481106,
title = "Dental Abnormalities in Schimke Immuno-osseous Dysplasia",
abstract = "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{\~A}{\v Z}{\^A}²1 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.",
keywords = "SMARCAL1, cell signaling, hypodontia, microdontia, molar root hypoplasia, tooth morphogenesis",
author = "M. Morimoto and O. K{\'e}rour{\'e}dan and M. Gendronneau and C. Shuen and A. Baradaran-Heravi and Y. Asakura and M. Basiratnia and R. Bogdanovi{\'c} and D. Bonneau and A. Buck and J. Charrow and P. Cochat and Dehaai, {K. A.} and Fenk{\c c}i, {M. S.} and P. Frange and S. Fr{\"u}nd and H. Fryssira and K. Keller and S. Kirmani and C. Kobelka and K. Kohler and Lewis, {D. B.} and L. Massella and Mcleod, {D. R.} and Milford, {D. V.} and F. Nobili and Olney, {A. H.} and Semerci, {C. N.} and N. Staji{\'c} and A. Stein and S. Taque and J. Zonana and T. L{\"u}cke and G. Hendson and M. Bonnaure-Mallet and Boerkoel, {C. F.}",
note = "Funding Information: This work was supported by the March of Dimes ( 6-FY02-136 to C.F.B.), the Gillson Longenbaugh Foundation (C.F.B.), the Dana Foundation (C.F.B.) and the New Development Award, Microscopy, and Administrative Cores of the Mental Retardation and Developmental Disabilities Research Center at Baylor College of Medicine (C.F.B.), the Burroughs Wellcome Foundation (Grant 1003400 to C.F.B.), the National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health ( R03 DK062174 and R21 DK065725 to C.F.B.), New Investigator Award from the SickKids Foundation – Canadian Institutes of Health Research Institute of Human Development, Child and Youth Health (C.F.B.), the Association Autour D{\textquoteright}Emeric et D{\textquoteright}Anthony (C.F.B.), and The Little Giants Foundation (C.F.B.). ",
year = "2012",
month = jul,
doi = "10.1177/0022034512450299",
language = "English",
volume = "91",
pages = "S29--S37",
journal = "Journal of Dental Research",
issn = "0022-0345",
publisher = "SAGE Publications Inc.",
}