The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

Abstract

A novel X-linked intellectual disability (XLID) syndrome with moderate intellectual disability and distinguishing craniofacial dysmorphisms had been previously mapped to the Xq26-q27 interval. On whole exome sequencing in the large family originally reported with this disorder, we identified a 23 bp frameshift deletion in the RNA binding motif protein X-linked (RBMX) gene at Xq26 in the affected males (n = 7), one carrier female, absent in unaffected males (n = 2) and in control databases (7800 exomes). The RBMX gene has not been previously causal of human disease. We examined the genic intolerance scores for the coding regions and the non-coding regions of RBMX; the findings were indicative of RBMX being relatively intolerant to loss of function variants, a distinctive pattern seen in a subset of XLID genes. Prior expression and animal modeling studies indicate that loss of function of RBMX results in abnormal brain development. Our finding putatively adds a novel gene to the loci associated with XLID and may enable the identification of other individuals affected with this distinctive syndrome.

DOI: 10.1111/cge.12511
0501002014201520162017
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@article{Shashi2015TheRG, title={The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.}, author={Vandana Shashi and Pei Xie and Kelly Schoch and David B. Goldstein and Tawanna D. Howard and Margaret N Berry and Charles E. Schwartz and Kassi Cronin and S Sliwa and Alfredo Allen and Anna C. Need}, journal={Clinical genetics}, year={2015}, volume={88 4}, pages={386-90} }