Can’t comb your kid’s hair? This gene may be to blame


Children with uncombable hair syndrome can have dry, shiny hair that stands away from the scalp.



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The flurry of frizzy-hair e-mails started out in 2016.

Human geneticist Regina Betz of university health center Bonn in Germany and her crew had simply linked three genes to a rare ailment with eye-catching signs: silvery, spangly, spun glass hair that just will now not lie flat. Referred to as uncombable hair syndrome, patients can have dry, vibrant strands that stand away from the scalp like a cloud of dandelion fluff. Only approximately 100 cases had ever been pronounced.

But after the have a look at, which looked at 18 cases, humans from all around the global reached out. “They stated, ‘Oh, i have a toddler like this’ or, ‘Oh, I regarded exactly like that as a toddler,’” says have a look at coauthor Buket Basmanav, a geneticist also at college health center Bonn. “Regina stated, ‘ship us your samples.’”



Now, the team has analyzed DNA samples from 107 humans with uncombable hair syndrome. Editions of only a single gene accounted for 71 percentage of cases, the researchers report August 31 in JAMA Dermatology.


The gene, PADI3, encodes an enzyme worried in hair shaft formation. 

Mutations in PADI3 can disrupt the process, tinkering with the hair’s shape. In humans with the syndrome, the hair shaft is grooved, like “a paper straw that has collapsed in on itself,” says Gillian Westgate, a hair biologist on the university of Bradford in England who turned into now not worried inside the take a look at.




A groove runs down the hair shaft of a girl with uncombable hair syndrome (left). A typical hair shaft (right) is not grooved.



Basmanav and her colleagues additionally related nearly four percent of the cases to variants of TGM3 or TCHH, the two other hair shaft genes that the crew had formerly studied. Almost 1 / 4 of the instances within the new observe stay genetically unexplained.

The paintings should assist docs diagnose the disorder, which often improves with age and isn’t commonly tied to health problems. Genetically trying out kids with the strangely lofty locks may ease the minds of dad and mom worried that their baby’s poufy ‘do is a sign of some thing more extreme, Westgate says.

A analysis of uncombable hair syndrome may be a comfort, Basmanav provides, because “we don’t anticipate any additional signs and symptoms to expose up.”


CITATIONS
F.B. Basmanav et al. Assessment of the genetic spectrum of uncombable hair syndrome in a cohort of 107 individuals. JAMA Dermatology. Published online August 31, 2022. doi: 10.1001/jamadermatol.2022.2319.