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MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.

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.

SUBMITTER: Liang J 

PROVIDER: S-EPMC5117928 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature

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MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.

Liang Jia J   Von den Hoff Johannes J   Lange Joanna J   Ren Yijin Y   Bian Zhuan Z   Carels Carine E L CE  

European journal of human genetics : EJHG 20160706 12

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  ...[more]