SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
Benjamin RoebenRebecca SchüleSusanne RufBenjamin BenderBader AlhaddadTanja BenkertThomas MeitingerSelina ReichJudith BöhringerClaus-Dieter LanghansFrédéric M VazSaskia B WortmannThorsten MarquardtTobias B HaackIngeborg Krägeloh-MannLudger SchölsMatthis SynofzikPublished in: Journal of medical genetics (2017)
Our findings add SERAC1 to the increasing list of complex lipid cHSP genes. At the same time they redefine the phenotypic spectrum of SERAC1 deficiency. It is associated not only with the severe infantile-onset 'Methylglutaconic aciduria, Deafness, Encephalopathy, Leigh-like' syndrome (MEGDEL syndrome), but also with oligosystemic juvenile-onset cHSP as part of the now unfolding SERAC1 deficiency spectrum.