SERAC1 deficiency causes complicated HSP

• Verfasst von: Röben, Benjamin [VerfasserIn]
• Verfasst von: Langhans, Claus-Dieter [VerfasserIn]
• Titel: SERAC1 deficiency causes complicated HSP
• Titelzusatz: evidence from a novel splice mutation in a large family
• Verf.angabe: Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M. Vaz, Saskia B. Wortmann, Thorsten Marquardt, Tobias B. Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
• Jahr: 2018
• Jahr des Originals: 2017
• Umfang: 9 S.
• Fussnoten: Published online first: 15 September 2017 ; Gesehen am 14.04.2020
• Titel Quelle: Enthalten in: Neurogenetics
• Ort Quelle: Berlin : Springer, 1997
• Jahr Quelle: 2018
• Band/Heft Quelle: 55(2018), 1, Seite 39-47
• ISSN Quelle: 1364-6753
• DOI: doi:10.1136/jmedgenet-2017-104622
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1694481328

Abstract

<h3>Objective</h3> <p>To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding <i>SERAC1</i> to the increasing number of complex lipid cHSP genes.</p><h3>Methods</h3> <p>Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family.