The loose anagen hair is an uncommon syndrome of hair anchorage impairment. This rare condition enables gentle and painless hair-plucking from the scalp due to the lack of inner and outer root sheaths. Children are more susceptible to this disorder. The genetic causes are not well understood as of now. This study attempts to improve the loose anagen hair’s etiology for better treatment and prevention techniques.
The next generation of cutting-edge DNA sequencing is the research method. The researchers conducted a functional analysis to identify the variants. A patient with features of loose anagen hair was the subject. The affected individual participated in a whole-exome sequencing analysis of pedigree.
The researchers found the compound heterozygosity in the TKFC gene. Two single nucleotide substitutions resulted in missense mutations. The structural analysis of TKFC located the mutation closer to the active site cavity. Kinetic assays of the recombinant proteins with these substitutions were negative. There was no DHA or GA kinase activity, and the FMN cyclase activity decreased to 10% of the wild-type catalytic activity.
TKFC missense mutations can lead to the development of hypotrichosis. This new identification improves metabolic and genetic understanding of loose anagen hairs.