Title: MSX1 mutations and associated disease phenotypes: genotype-phenotype relations
Authors: Liang, Jia ×
Von den Hoff, Johannes
Lange, Joanna
Ren, Yijin
Bian, Zhuan
Carels, Carine #
Issue Date: Jul-2016
Publisher: Nature Publishing Group
Series Title: European Journal of Human Genetics vol:Ahead of print
Article number: 10.1038/ejhg.2016.78
Abstract: The Msx1 transcription factor is involved in multiple epithelial-mesenchymal interactions during vertebrate embryogenesis. It has pleiotropic effects in several tissues. In humans, MSX1 variants have been related to tooth agenesis, orofacial clefting, and nail dysplasia. We correlate all MSX1 disease causing variants to phenotypic features to shed light on this hitherto unclear association. MSX1 truncations cause more severe phenotypes than in-frame variants. Mutations in the homeodomain always cause tooth agenesis with or without other phenotypes while mutations outside the homeodomain are mostly associated with non-syndromic orofacial clefts. Downstream effects can be further explored by the edgetic perturbation model. This information provides new insights for genetic diagnosis and for further functional analysis of MSX1 variants.European Journal of Human Genetics advance online publication, 6 July 2016; doi:10.1038/ejhg.2016.78.
ISSN: 1018-4813
Publication status: accepted
KU Leuven publication type: IT
Appears in Collections:Orthodontics
× corresponding author
# (joint) last author

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