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doi:10.22028/D291-34874
Titel: | A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies |
VerfasserIn: | Boeckelmann, Doris Wolter, Mira Käsmann-Kellner, Barbara Koehler, Udo Schieber-Nakamura, Lea Zieger, Barbara |
Sprache: | Englisch |
Titel: | Cells |
Bandnummer: | 10 |
Heft: | 10 |
Verlag/Plattform: | MDPI |
Erscheinungsjahr: | 2021 |
Freie Schlagwörter: | Hermansky-Pudlak syndrome HPS-11 bleeding tendency hypopigmentation oculocutaneous albinism BLOC1S5 |
DDC-Sachgruppe: | 610 Medizin, Gesundheit |
Dokumenttyp: | Journalartikel / Zeitschriftenartikel |
Abstract: | Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features. The genes associated with HPS encode for different BLOC- (biogenesis of lysosome-related organelles complex) complexes and for the AP-3 (adaptor protein-3) complex, respectively. These proteins are involved in maturation, trafficking, and the function of lysosome-related organelles (LROs) such as melanosomes and platelet δ-granules. Some patients with different types of HPS can develop additional complications and symptoms like pulmonary fibrosis, granulomatous colitis, and immunodeficiency. A new type of HPS has recently been identified associated with genetic alterations in the BLOC1S5 gene, which encodes the subunit Muted of the BLOC-1 complex. Our aim was to unravel the genetic defect in two siblings with a suspected HPS diagnosis (because of OCA and bleeding symptoms) using next generation sequencing (NGS). Platelet functional analysis revealed reduced platelet aggregation after stimulation with ADP and a severe secretion defect in platelet δ-granules. NGS identified a novel homozygous essential splice site variant in the BLOC1S5 gene present in both affected siblings who are descendants of a consanguine marriage. The patients exhibited no additional symptoms. Our study confirms that pathogenic variants of BLOC1S5 cause the recently described HPS type 11. |
DOI der Erstveröffentlichung: | 10.3390/cells10102630 |
Link zu diesem Datensatz: | urn:nbn:de:bsz:291--ds-348745 hdl:20.500.11880/31892 http://dx.doi.org/10.22028/D291-34874 |
ISSN: | 2073-4409 |
Datum des Eintrags: | 26-Okt-2021 |
Fakultät: | M - Medizinische Fakultät |
Fachrichtung: | M - Augenheilkunde |
Professur: | M - Keiner Professur zugeordnet |
Sammlung: | SciDok - Der Wissenschaftsserver der Universität des Saarlandes |
Dateien zu diesem Datensatz:
Datei | Beschreibung | Größe | Format | |
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cells-10-02630-v2.pdf | 742,05 kB | Adobe PDF | Öffnen/Anzeigen |
Diese Ressource wurde unter folgender Copyright-Bestimmung veröffentlicht: Lizenz von Creative Commons