Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.

ABSTRACT: Robust diagnostics for many human genetic disorders are much needed in the pursuit of global personalized medicine. Next-generation sequencing now offers new promise for biomarker and diagnostic discovery, in developed as well as resource-limited countries. In this broader global health context, X-linked intellectual disability (XLID) is an inherited genetic disorder that is associated with a range of phenotypes impacting societies in both developed and developing countries. Although intellectual disability arises due to diverse causes, a substantial proportion is caused by genomic alterations. Studies have identified causal XLID genomic alterations in more than 100 protein-coding genes located on the X-chromosome. However, the causes for a substantial number of intellectual disability and

SUBMITTER: Muthusamy B 

PROVIDER: S-EPMC5586158 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature