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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

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