New HPS gene identified

Jun 28, 2020

Researchers at the University of Bordeaux’s Molecular Genetics, Rare Disease, Genetics, Metabolism Lab report finding a new gene that causes the HPS type of albinism in the Journal of Genetics in Medicine. They found two individuals with the newly discovered gene, HPS 11.

The HPS 11 gene encodes to the protein complex BLOC 1. Other types of HPS that encode to protein complex BLOC 1 include HPS 7, 8 and 9. These are especially rare types of HPS with few known patients around the world.

Patient 1 is reported to be 20 years old and of French Flandish heritage. It appears patient one is a mild bleeder. Patient 2 is 39 years old and of Slovenian heritage. She has a more extensive bleeding history as well as a history of some infections. More study will be needed to determine with greater certainty which clinical features, besides albinism and a bleeding tendency, are associated with these rarer types of HPS.