title: Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.
abstract: Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting lysosome-related organelles (LRO), including dense platelet granules. HPS causes oculocutaneous hypopigmentation, bleeding diathesis and granulomatous colitis or pulmonary fibrosis. To date, there is no curative treatment and the clinical management depends on the severity of symptoms. A prompt diagnosis of HPS patients could improve their quality of life and clinical management. However, the absence of a specific platelet function test, the wide molecular heterogeneity, and the lack of phenotype-genotype correlations hamper the rapid diagnosis. Nine subtypes of HPS have been identified as a result of mutations in nine genes that codify for proteins involved in formation and shuttle of the LRO. The molecular characterization of patients and knowledge derived from animal models of HPS contribute to the understanding of biogenesis and function of the LRO. This paper describes a patient with a novel homozygous nonsense mutation causing HPS and provides a review of the literature focusing on recent advances in the molecular characterization and physiopathology of HPS.
authors.forename: I
authors.initials: I
authors.lastname: Sánchez-Guiu
authors.forename: J M
authors.initials: JM
authors.lastname: Torregrosa
authors.forename: F
authors.initials: F
authors.lastname: Velasco
authors.forename: A I
authors.initials: AI
authors.lastname: Antón
authors.forename: M L
authors.initials: ML
authors.lastname: Lozano
authors.forename: V
authors.initials: V
authors.lastname: Vicente
authors.affiliation: José Rivera, PhD., Centro Regional de Hemodonación, C/ Ronda de Garay s/n, Murcia, 30003, Spain, Tel. +34/968/34 19 90; Fax +34/968/261 91, E-mail: jose.rivera@carm.es.
authors.forename: J
authors.initials: J
authors.lastname: Rivera
mesh_terms: D000328:Adult; D001483:Base Sequence; D019317:Evidence-Based Medicine; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation / Q000235:genetics; D022861:Hermanski-Pudlak Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C102160:HPS1 protein, human; D008565:Membrane Proteins
keywords: Hermansky-Pudlak syndrome; dense granules; inherited platelet disorders