Mutations On X Chromosome Discovered: Seven Genes Linked To X-Linked Intellectual Disability

Researchers have now identified seven x-linked genes related to intellectual disability, a health issue that primarily affects men with highly variable clinical manifestations.

Scientists at the Max Plan Institute for Molecular Genetics in Berlin discovered the genes on the X chromosome while using a method of genetic analysis that significantly simplifies the search for rare genetic defects.

X-linked intellectual disability is the result of defective genes on the X chromosome. Since men only carry one X chromosome, the disease is typically passed on in a recessive matter. However, women with one healthy and one mutated X chromosome are typically not affected.

Researchers analyzed 405 families, in which X-linked intellectual disability showed a number of genes that were known to be related to the disorder. Furthermore, scientists discovered that X-linked intellectual disability can result from mutations in seven genes that are not associated with the disorder.

"In addition to known disease-related genes, we have discovered seven novel genes as the cause of X-linked intellectual disability and analysed what signaling pathways in the cells each protein is involved in," Max Planck researchers Vera Kalscheuer, said in a news release.

Furthermore, systematic re-sequencing of X-linked genes may result in a genetic defect that can be identified in close to 60 percent of families with X-linked intellectual disability. However, this also requires that the condition fragile-X syndrome has also been ruled out-a rare health issue that results in a number of learning disabilities and cognitive problems.

More information regarding the findings can be seen here.

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