Mutations in the gene can disrupt that process, causing changes in the hair’s structure. It directs certain cells to make an enzyme involved in the formation of hair shafts. Basmanav et al/ American Journal of Human Genetics 2016 Groovy hair shafts Typically, a hair shaft is not grooved (right). A sunken groove extends along this hair shaft from a girl with uncombable hair syndrome (left). The group shared their new findings August 31 in JAMA Dermatology. They found that variations in just a single gene account for more than two-thirds (71 percent) of the cases. Since then, the team has analyzed DNA from 107 people with uncombable hair syndrome. So, Basmanav recalls, Betz told the emailers: “Send us your samples.” Those emails, she says, were noting “Oh, I have a child like this” or, “Oh, I looked exactly like that as a child.” The group knew they had to investigate. Buket Basmanav is another geneticist at University Hospital Bonn who was part of the team. As of early 2016, only 100 cases or so had ever been reported.īut after the study came out, people from around the world started emailing the researchers. The disorder, called uncombable hair syndrome, causes dry, shiny hair strands that look a bit like dandelion fluff. Those born with the altered genes have a headful of fluffy hair that simply won’t lie down flat. Her team had just linked three genes to a striking hair-related disorder. It was 2016 and the frizzy-hair emails kept coming.īetz is a human geneticist in Germany at University Hospital Bonn.
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