Learning Disabilities In Males: Nine New X Chromosome Genes Linked To Learning Disabilities

Image: Family with missense variants in the CASK gene, one of the genes discovered in this study. Individuals with the missense variant are denoted by a *. Females are denoted with circles and males with squares. Black shading denotes individuals with learning disabilities. (Credit: Image courtesy of Wellcome Trust Sanger Institute)

From Science Daily:

ScienceDaily (Apr. 20, 2009) — A collaboration between more than 70 researchers across the globe has uncovered nine new genes on the X chromosome that, when knocked-out, lead to learning disabilities. The international team studied almost all X chromosome genes in 208 families with learning disabilities - the largest screen of this type ever reported.

Remarkably, the team also found that approximately 1-2% of X chromosome genes, when knocked-out, have no apparent effect on an individual's ability to function in the ordinary world. The publication in Nature Genetics - a culmination of five years of scientific collaboration - emphasises the power of sequencing approaches to identify novel genes of clinical importance, but also highlights the challenges researchers face when carrying out this kind of study.

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