Regina Betz’s inbox was flooded. It was 2016 and the frizzy-hair emails kept coming.
Betz is a human geneticist in Germany at University Hospital Bonn. Her team had just linked three genes to a striking hair-related disorder. Those born with the altered genes have a headful of fluffy hair that simply won’t lie down flat. The disorder, called uncombable hair syndrome, causes dry, shiny hair strands that look a bit like dandelion fluff. As of early 2016, only 100 cases or so had ever been reported.
But after the study came out, people from around the world started emailing the researchers. Buket Basmanav is another geneticist at University Hospital Bonn who was part of the team. 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. So, Basmanav recalls, Betz told the emailers: “Send us your samples.”
Since then, the team has analyzed DNA from 107 people with uncombable hair syndrome. They found that variations in just a single gene account for more than two-thirds (71 percent) of the cases. The group shared their new findings August 31 in JAMA Dermatology.
Groovy hair shafts
The gene is named PADI3. It directs certain cells to make an enzyme involved in the formation of hair shafts. Mutations in the gene can disrupt that process, causing changes in the hair’s structure. Those shafts in people with the syndrome can have grooves that extend along the length of each strand.
The hair looks somewhat like “a paper straw that has collapsed in on itself,” says Gillian Westgate. She’s a biologist who studies hair at the University of Bradford in England but was not involved in the new study.
The Bonn group also found that nearly 4 percent of the new cases showed variants of two other hair-shaft genes that they had studied earlier. But about one fourth of the cases in the new study remain unexplained.
The team’s findings could help doctors better diagnose the disorder. It isn’t typically tied to health problems. And hair manageability often improves with age. But a genetic cause might calm parents who worry that their child’s airy, spun-glass hair is a sign of some bigger problem, Westgate says.
Basmanav agrees that genetic tests identifying uncombable hair syndrome can be a relief. It eases their minds, she says, to hear “we don’t expect any additional symptoms to show up.”