Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

Keratosis pilaris atrophicans (KPA) is a group of related skin disorders characterized by inflammatory keratotic skin-papules and hair loss on the scalp, eyebrows and eye-lashes. Facial scarring is a complication.

A consanguineous family with four members affected by KPA was subject to extensive genetic investigation. The analysis revealed that affected individuals had inherited a unique DNA variant in a gene encoding the protein LRP1. Further studies showed that patients had reduced levels of LRP1 and one of its binding partners. Among multiple functions, LRP1 mediates inflammatory responses. Thus, the authors’ findings suggest perturbed immunoregulation as one pathophysiological mechanism behind KPA. (By Dr. Niklas Dahl, http://jmg.bmj.com/content/early/2015/07/03/jmedgenet-2014-102931 )

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Dahl Group: From back left- Joakim Klar, Jens Schuster, Niklas Dahl, Muhammad Jameel. Front- Maria Sobol.

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