Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.

Background: Dyslexia is a polygenic speech and language disorder characterized by an unexpected difficulty in reading in children and adults despite normal intelligence and schooling. Increasing evidence reveals that different speech and language disorders could share common genetic factors. As previous study reported association of GNPTAB, GNPTG and NAGPA with stuttering, we investigated these genes with dyslexia through association analysis.

Association study of developmental dyslexia candidate genes DCDC2 and KIAA0319 in Chinese population.

Developmental dyslexia (DD) is characterized by difficulties in reading and spelling independent of intelligence, educational backgrounds and neurological injuries. Increasing evidences supported DD as a complex genetic disorder and identified four DD candidate genes namely DYX1C1, DCDC2, KIAA0319 and ROBO1. As such, DCDC2 and KIAA0319 are located in DYX2, one of the most studied DD susceptibility loci.

Stuttering candidate genes DRD2 but not SLC6A3 is associated with developmental dyslexia in Chinese population.

Background: Dyslexia is a polygenic developmental disorder characterized by difficulties in reading and spelling despite normal intelligence, educational backgrounds and perception. Increasing evidences indicated that dyslexia may share similar genetic mechanisms with other speech and language disorders. We proposed that stuttering candidate genes, DRD2 and SLC6A3, might be associated with dyslexia.

Pitfalls in experimental designs for characterizing the transcriptional, methylational and copy number changes of oncogenes and tumor suppressor genes.

Background: It is a common practice that researchers collect a set of samples without discriminating the mutants and their wild-type counterparts to characterize the transcriptional, methylational and/or copy number changes of pre-defined candidate oncogenes or tumor suppressor genes (TSGs), although some examples are known that carcinogenic mutants may express and function completely differently from their wild-type counterparts.

Principal Findings: Based on various high-throughput data without mutation information for typical cancer types, we surprisingly found that about half of known oncogenes (or TSGs) pre-defined by mutations were down-regulated (or up-regulated) and hypermethylated (or hypomethylated) in their corresponding cancer types. Therefore, the overall expression and/or methylation changes of genes detected in a set of samples without discriminating the mutants and their wild-type counterparts cannot indicate the carcinogenic roles of the mutants.

Analysis of pathway mutation profiles highlights collaboration between cancer-associated superpathways.

The biological interpretation of the complexity of cancer somatic mutation profiles is a major challenge in current cancer research. It has been suggested that mutations in multiple genes that participate in different pathways are collaborative in conferring growth advantage to tumor cells. Here, we propose a powerful pathway-based approach to study the functional collaboration of gene mutations in carcinogenesis.