The El-Shanti Lab participated in the Stead Family Department of Pediatrics Research Day, an annual event that allows the researchers in the Department of Pediatrics to share the work they are doing with one another. The lab presented the results from a family in our Loose Anagen Hair Syndrome cohort. The poster summarizes an intronic variant found in the Keratin 71 (KRT71) gene of affected family members. This keratin is found in the inner root sheath of the hair follicle, a structure which is responsible for anchoring the hair shaft to the rest of the follicle. KRT71 and its type I keratin partners come together to make structures called Keratin Intermediate Filaments which help to support the cell and give it resistance to tearing when under stress. 

The variant was found to alter splicing when investigated with a minigene experiment. This altered processing of the mRNA transcript changes the recipe for the KRT71 protein, adding four new amino acids to an area of the protein responsible for the strength and elasticity properties of the filaments that the protein and its partner(s) form when under stress. 

The affected members of the family express tightly curled hair, associated with the woolly hair phenotype that has been previously associated with KRT71 and KRT74 variants. The poor anchorage of the hair follicles that they experience lead us to recommend expanding their diagnosis to Autosomal Dominant Woolly Hair (ADWH) and to further recommend that ADWH have its clinical presentation expanded to include the potential for loose anagen hairs. 

Please click the image of the poster for a full resolution view.