Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Abstract

Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila and mouse models, we show that the proteins encoded by SMARCAL1… (More)
DOI: 10.1093/hmg/dds083

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@article{BaradaranHeravi2012PenetranceOB, title={Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.}, author={Alireza Baradaran-Heravi and Kyoung Sang Cho and Bas Tolhuis and Mrinmoy Sanyal and Olena Morozova and Marie Morimoto and Leah I Elizondo and Darren J. Bridgewater and Joanna M. Lubieniecka and Kimberly Beirnes and Clara Myung and Danny T M Leung and Hok Khim Fam and Kunho Choi and Yan Huang and Kira Y Dionis and Jonathan Zonana and Kory L Keller and Peter Stenzel and Christy Mayfield and Thomas L{\"u}cke and Arend Bokenkamp and Marco A. Marra and Maarten van Lohuizen and David B. Lewis and Chad Shaw and Cornelius F. Boerkoel}, journal={Human molecular genetics}, year={2012}, volume={21 11}, pages={2572-87} }