Recently, from the translational genomics research institute (Translational Genomics Research Institute) the researchers identified by research can lead to children's body retardation and abnormality of gene mutation related research published in the International Journal of American Journal of Medical Genetics. Based on the analysis of the genome of a 6 year old child, researchers identified a new gene mutation that can affect the expression of CASK protein, which is critical for the development of children's brain and signal transduction between brain neurons.

Professor Isabelle Schrauwen said that identifying new CASK mutations can help us understand the mechanisms of these children's various obstacles, and provide new clues and ideas for later development of new therapies to treat these diseases. Researchers pointed out that children's symptoms include growth retardation, eating disorders (including severe gastrointestinal and gastroesophageal complications), and unconscious eye movement (called nystagmus), which can reduce or limit children's vision. Although children's IQ and language skills are normal, they may cause injuries in motor development, behavior and memory abilities, and these clinical characteristics are also signs of FGS4's rare development syndrome.

Researchers say the child is very sensitive to noisy noise, and has strong need to touch and inspect objects, accompanied by vision, exercise ability and memory impairment. Vinodh Narayanan said, we need to find out the reason of sick children such as mentioned in this paper, through the genetic causes of these genetic mutations caused by tracking, we hope to clarify the cause of this rare disease, and develop the corresponding therapy for treatment of patients.

Researchers at the translational genomics research center of rare disease of Children Research Institute has more than 440 children were suffering from a rare disease genome sequencing research, finally to achieve nearly 40% children with the diagnosis rate, the diagnosis rate is about three times higher than the general population using the general method of diagnosis rate.

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