Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1
| العنوان: | Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1 |
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| المؤلفون: | Rachel Kilner, Andrew D Mumford, Sarah Booth, Matthew L. Jones, Gillian M. Griffiths, Michelle Cummins, Matt Wenham, Philip Ancliff, Samantha Grieve |
| المصدر: | Haematologica. 95:333-337 |
| بيانات النشر: | Ferrata Storti Foundation (Haematologica), 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Platelet Function Tests, Adaptor Protein Complex 3, Protein subunit, Biology, AP3B1, Internal medicine, medicine, Humans, Adaptor Protein Complex beta Subunits, Child, CD63, Infant, Signal transducing adaptor protein, Hematology, medicine.disease, Oculocutaneous albinism, Molecular biology, Transmembrane protein, CTL, Phenotype, Endocrinology, Albinism, Oculocutaneous, Hermanski-Pudlak Syndrome, Mutation, Brief Reports, Female, Hermansky–Pudlak syndrome, T-Lymphocytes, Cytotoxic |
| الوصف: | Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins to lysosomes and related organelles. We now report 2 unrelated subjects with HPS2 who show a characteristic clinical phenotype of oculocutaneous albinism, platelet and T-lymphocyte dysfunction and neutropenia. The subjects were homozygous for different deletions within AP3B1 (g.del180242-180866, c.del153-156), which encodes the AP-3beta3A subunit, resulting in frame shifts and introduction of nonsense substitutions (p.E693fsX13, p.E52fsX11). In the subject with p.E693fsX13, this resulted in expression of a truncated variant beta3A protein. Cytotoxic T-lymphocyte (CTL) clones from both study subjects showed increased cell-surface expression of CD63 and reduced cytotoxicity. Platelets showed impaired aggregation and reduced uptake of (3)H-serotonin. These findings are consistent with CTL granule and platelet dense granule defects, respectively. This report extends the clinical and laboratory description of HPS2. |
| تدمد: | 1592-8721 0390-6078 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9156df08a9704e4fd7de8a1e567bf5Test https://doi.org/10.3324/haematol.2009.012286Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1f9156df08a9704e4fd7de8a1e567bf5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15928721 03906078 |
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