A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.
Amyloidosis of the Finnish type
Finnish Amyloidosis
Meretoja syndrome
gelsolin
inherited corneal dystrophy
type II lattice dystrophy
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
revised:
15
04
2021
received:
20
01
2021
accepted:
26
04
2021
pubmed:
12
5
2021
medline:
1
4
2022
entrez:
11
5
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Gelsolin
0
Calcium
SY7Q814VUP
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
818-826Informations de copyright
© 2021 Wiley Periodicals LLC.
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