Genetic Disorder Discovered for Children Who Don't Cry

Researchers at Duke University are crediting a blog created by an associate professor at the University of Utah for their discovery of a new genetic disorder that is responsible for a child's inability to cry.

Matthew Might of the University of Utah claimed that his son was Patient 0 for a new genetic disorder on May 29, 2012. His son, Bertrand, was unable to cry; or at least he could "cry" but he was unable to emit tears. The same went for another child named Grace Wilsey.

Both of these children were found to be lethargic, possessing hollow and unfocused eyes. Bertrand, as his father noted, had little to no motor control by the time he was six months old and he seemed "jiggly." Similarly, Grace appeared constantly limp like a rag doll and her cognitive and motor functions were well below the average capacity for her age.

Grace's parents took her to over 100 doctors and none had a definitive answer for them. One of Bertrand's doctors went far enough to ask Mrs. Might if her husband was actually his father. That was how little anyone knew about this genetic mutation. But when scientists at Duke University found that these two children possessed the same symptoms, they were able to unearth a substantial discovery.

The NGLY1 gene, or N-glycanase 1, was the culprit. This protein-coding gene was found to be deficient in Grace and Bertrand, which was caused by mutations in the gene. However, Grace's mutations were of the destructive kind, revealing liver damage. Bertrand's mutations are characterized as "pretty bad" because he didn't have any harmful or threatening symptoms. The NGLY1 gene also helps break down defective proteins so they can be reused throughout the body.

Since this discovery, the new NGLY1 deficiency has been detected in eight patients, and those at the Human Genome Project, the pioneers of identifying genetic mutations, hope to find out more about this rare mutation that affected Grace and Bertrand.

To read more about the NGLY1 deficiency, visit this CNN News article.