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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Shashi, V; Xie, P; Schoch, K; Goldstein, DB; Howard, TD; Berry, MN; Schwartz, CE; Cronin, K; Sliwa, S; Allen, A; Need, AC

Published Date

  • October 2015

Published In

Volume / Issue

  • 88 / 4

Start / End Page

  • 386 - 390

PubMed ID

  • 25256757

Electronic International Standard Serial Number (EISSN)

  • 1399-0004

Digital Object Identifier (DOI)

  • 10.1111/cge.12511


  • eng

Conference Location

  • Denmark