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Medientyp: E-Artikel Titel: Three cases of Troyer syndrome in two families of Filipino descent Beteiligte: Butler, Shauna; Helbig, Katherine L.; Alcaraz, Wendy; Seaver, Laurie H.; Hsieh, David T.; Rohena, Luis Erschienen: Wiley, 2016 Erschienen in: American Journal of Medical Genetics Part A Sprache: Englisch DOI: 10.1002/ajmg.a.37658 ISSN: 1552-4825; 1552-4833 Schlagwörter: Genetics (clinical) ; Genetics Entstehung: Anmerkungen: Beschreibung: <jats:sec><jats:label /><jats:p>Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in <jats:italic>SPG20</jats:italic> first reported in the Old Amish population. A genetic mutation in <jats:italic>SPG20</jats:italic> is responsible for a loss of function of the protein spartin in this disease. Since its initial report, this syndrome has also been reported in Turkish and Omani families. Here we report the case of three patients of Filipino descent with Troyer syndrome. Whole exome sequencing (WES) identified a homozygous mutation c.364_365delAT which predicts p.Met122Valfs*2 in <jats:italic>SPG20</jats:italic>. This is the same mutation identified in affected patients from the Omani and Turkish families, and is the first report of this syndrome in the Filipino population. Although Troyer syndrome has characteristic phenotypic manifestations it is likely underdiagnosed due to its rarity and we expect that WES will lead to identifying this disease in other individuals. © 2016 Wiley Periodicals, Inc.</jats:p></jats:sec>