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Article

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Journal of medical genetics - 1 Jan 2018

Roeben Benjamin, Schüle Rebecca, Ruf Susanne, Bender Benjamin, Alhaddad Bader, Benkert Tanja, Meitinger Thomas, Reich Selina, Böhringer Judith, Langhans Claus-Dieter, Vaz Frédéric M, Wortmann Saskia B, Marquardt Thorsten, Haack Tobias B, Krägeloh-Mann Ingeborg, Schöls Ludger, Synofzik Matthis

Abstract excerpt

OBJECTIVE: To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid cHSP genes. METHODS: Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid,...

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Identifiers

PMID: 28916646
DOI: 10.1136/jmedgenet-2017-104622

Genes

SERAC1

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