Ontology highlight
ABSTRACT:
SUBMITTER: Potrc M
PROVIDER: S-EPMC7865823 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Potrč Maja M Volk Marija M de Rosa Matteo M Pižem Jože J Teran Nataša N Jaklič Helena H Maver Aleš A Drnovšek-Olup Brigita B Bollati Michela M Vogelnik Katarina K Hočevar Alojzija A Gornik Ana A Pfeifer Vladimir V Peterlin Borut B Hawlina Marko M Fakin Ana A
International journal of molecular sciences 20210122 3
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic <i>GSN</i> variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel <i>GSN</i> variant p.Glu580Lys. We studied DNA samples of seven members of a two-generation family. Exome sequencing was performed in the proband, and targeted Sanger sequencing in the others. The heterozygous <i>GSN</i> variant p.Glu580Lys was ...[more]