A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Sir, Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterized by oculocutaneous albinism, bleeding, and lysosomal ceroid storage resulted from deficiencies in multiple cytoplasmic organelles including melanosomes, platelet-dense granules, and lysosomes (1). [...]...

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Bibliographic Details
Published in:International journal of molecular and cellular medicine 2016, Vol.5 (3), p.192-195
Main Authors: Ghafouri-Fard, Soudeh, Hashemi-Gorji, Feyzollah, Yassaee, Vahid Reza, Alipour, Nasrin, Miryounesi, Mohammad
Format: Article
Language:English
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Summary:Sir, Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterized by oculocutaneous albinism, bleeding, and lysosomal ceroid storage resulted from deficiencies in multiple cytoplasmic organelles including melanosomes, platelet-dense granules, and lysosomes (1). [...]it is a part of a protein complex that controls the intracellular localization of lysosomes and late endosomes and participates in the biogenesis of lysosome-related organelles complex as well as melanosome biogenesis (7). Genomic DNA was extracted from peripheral blood leukocytes of the patient after informed consent using the standard salting out method.
ISSN:2251-9637
2251-9645