What causes Hermansky-Pudlak syndrome (HPS)?

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Hermansky-Pudlak syndrome is an autosomal recessive disorder. Founder effects (one or several people who originated a population) are believed to cause the clustering of the disease in such places as Puerto Rico. The origin of Hermansky-Pudlak syndrome in Puerto Rico has been traced to a region of southern Spain, and a connection to cases in Holland is possible.

Other researchers have identified a second example of a founder mutation causing Hermansky-Pudlak syndrome in central Puerto Rico. They estimated that the large deletion in the HPS3 gene arose from 1880-1890. At that time, the ancestors of 3 of the 6 families with HPS-3 emigrated from the town of Ciales to the towns of Aibonito, Barranquitas, and Naranjito. Each of the 3 families could also trace their ancestry to 1 individual, Calixto Rivera, who brought his relatives to Aibonito and the surrounding area to deforest his land for tobacco growing.

Consanguinity and geographical isolation contribute to the continued occurrence of the disease.

Pseudodominance has been reported in the northwestern quarter of Puerto Rico and is associated with patients with Hermansky-Pudlak syndrome who marry persons who are carriers.


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