Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/131367
Citations
Scopus Web of Science® Altmetric
?
?
Type: Journal article
Title: A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type
Author: Mullany, S.
Souzeau, E.
Klebe, S.
Zhou, T.
Knight, L.S.W.
Qassim, A.
Berry, E.C.
Marshall, H.
Hussey, M.
Dubowsky, A.
Breen, J.
Hassall, M.M.
Mills, R.A.
Craig, J.E.
Siggs, O.M.
Citation: Human Mutation, 2021; 42(7):818-826
Publisher: Wiley
Issue Date: 2021
ISSN: 1059-7794
1098-1004
Statement of
Responsibility: 
Sean Mullany, Emmanuelle Souzeau, Sonja Klebe, Tiger Zhou, Lachlan S. W. Knight, Ayub Qassim ... et al.
Abstract: Gelsolin (GSN) variants have been implicated in amyloidosis of the Finnish type. This case series reports a novel GSN:c.1477T>C,p.(Trp493Arg) variant in a family with ocular and systemic features consistent with Finnish Amyloidosis. Exome sequencing performed on affected individuals from two families manifesting cutis laxa and polymorphic corneal stromal opacities demonstrated the classic GSN:c.654G>A,p.Asp214Asn variant in single affected individual from one family, and a previously undocumented GSN:c.1477T>C variant in three affected first-degree relatives from a separate family. Immunohistochemical studies on corneal tissue from a proband with the c.1477T>C variant identified gelsolin protein within histologically defined corneal amyloid deposits. This study reports a novel association between the predicted pathogenic GSN:c.1477T>C variant and amyloidosis of the Finnish type, and is the first to provide functional evidence of a pathological GSN variant at a locus distant to the critical G2 calcium-binding region, resulting in the phenotype of amyloidosis of the Finnish type.
Keywords: Amyloidosis of the Finnish type; Finnish Amyloidosis; gelsolin; inherited corneal dystrophy; Meretoja syndrome; type II lattice dystrophy
Rights: © 2021 Wiley Periodicals LLC.
DOI: 10.1002/humu.24214
Grant ID: http://purl.org/au-research/grants/nhmrc/1150144
http://purl.org/au-research/grants/nhmrc/1557571
Appears in Collections:Aurora harvest 4
Genetics publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.