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Article

A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.

Human mutation - 1 Jul 2021

Mullany Sean, Souzeau Emmanuelle, Klebe Sonja, Zhou Tiger, Knight Lachlan S W, Qassim Ayub, Berry Ella C, Marshall Henry, Hussey Matthew, Dubowsky Andrew, Breen James, Hassall Mark M, Mills Richard A, Craig Jamie E, Siggs Owen M

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33973672
DOI: 10.1002/humu.24214

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