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

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 fami...

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Veröffentlicht in:	Human mutation 2021-07, Vol.42 (7), p.818-826
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyloid Amyloidosis Amyloidosis - genetics Amyloidosis of the Finnish type Calcium Calcium - metabolism Cornea Corneal Dystrophies, Hereditary - genetics Finland Finnish Amyloidosis Gelsolin Gelsolin - genetics Gelsolin - metabolism Genetic Variation Humans inherited corneal dystrophy Meretoja syndrome Phenotypes type II lattice dystrophy
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