Hermansky-Pudlak syndrome type 9 (HPS9) is a sub-type of Hermansky-Pudlak syndrome and presents typically without bleeding manifestations (PMID:25117010).
Cullinane et al. (2011) studied a 9-month-old boy of Indian ancestry who was born with generalized hypopigmentation and respiratory distress requiring 3 weeks of respiratory support. Examination at 3 months of age showed nystagmus, iris transillumination, and retinal ... Cullinane et al. (2011) studied a 9-month-old boy of Indian ancestry who was born with generalized hypopigmentation and respiratory distress requiring 3 weeks of respiratory support. Examination at 3 months of age showed nystagmus, iris transillumination, and retinal hypopigmentation. Absent platelet delta granules were noted on electron microscopy at 9 months of age. Growth, development, and general health were normal, and there was no history of severe or unusual infections, easy bruising, or bleeding. The irides were pale blue, and nystagmus was present. His hair was blond and silvery; hair microscopy showed reduced pigment relative to ethnic background, but no unusual pigment clumping. Cultured melanocytes reflected the reduction in pigment. Badolato et al. (2012) studied a 17-year-old northern Italian girl with oculocutaneous albinism, nystagmus, and normal neurologic development who presented with recurrent cutaneous infections but without hemorrhagic episodes. Her medical history included a prolonged episode of fever with seizures at 6 years of age. At presentation, she had thrombocytopenia and leukopenia, with normal platelet aggregation.
In 38 patients with HPS-like symptoms but no mutations in the genes associated with HPS1-HPS6 (see 203300), Cullinane et al. (2011) sequenced the exonic regions of all 8 BLOC-1 (see 601444) subunit-encoding genes and identified homozygosity for a ... In 38 patients with HPS-like symptoms but no mutations in the genes associated with HPS1-HPS6 (see 203300), Cullinane et al. (2011) sequenced the exonic regions of all 8 BLOC-1 (see 601444) subunit-encoding genes and identified homozygosity for a nonsense mutation in the gene encoding pallidin (Q78X; 604310.0001) in a 9-month-old boy of Indian ancestry who had albinism and no platelet delta granules. Cullinane et al. (2011) noted that although the patient had no clinical signs of additional HPS subtype-specific symptoms such as immunodeficiency, granulomatous colitis, or pulmonary fibrosis, some of those symptoms could develop at a later age. In a 17-year-old Italian girl with an HPS-like primary immunodeficiency syndrome, Badolato et al. (2012) performed whole-exome sequencing and identified homozygosity for the same Q78X mutation in the PLDN gene found by Cullinane et al. (2011) in a patient with HPS. No mutations were found in other immunodeficiency-associated genes. Sanger sequencing confirmed the Q78X PLDN mutation, which was also present in heterozygosity in her unaffected parents.