Delineation of a new fibrillin-2-opathy with evidence for a role of
human genetics
orthopedics
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
received:
14
04
2020
revised:
08
07
2020
accepted:
26
07
2020
pubmed:
10
9
2020
medline:
22
2
2022
entrez:
9
9
2020
Statut:
ppublish
Résumé
Although carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment neuropathy, its pathogenesis remains largely unknown. An estimated heritability index of 0.46 and an increased familial occurrence indicate that genetic factors must play a role in the pathogenesis. We report on a family in which CTS occurred in subsequent generations at an unusually young age. Additional clinical features included brachydactyly and short Achilles tendons resulting in toe walking in childhood. Using exome sequencing, we identified a heterozygous variant (c.5009T>G; p.Phe1670Cys) in the fibrillin-2 ( The identification of a novel
Sections du résumé
BACKGROUND
Although carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment neuropathy, its pathogenesis remains largely unknown. An estimated heritability index of 0.46 and an increased familial occurrence indicate that genetic factors must play a role in the pathogenesis.
METHODS AND RESULTS
We report on a family in which CTS occurred in subsequent generations at an unusually young age. Additional clinical features included brachydactyly and short Achilles tendons resulting in toe walking in childhood. Using exome sequencing, we identified a heterozygous variant (c.5009T>G; p.Phe1670Cys) in the fibrillin-2 (
CONCLUSION
The identification of a novel
Identifiants
pubmed: 32900841
pii: jmedgenet-2020-107085
doi: 10.1136/jmedgenet-2020-107085
doi:
Substances chimiques
FBN2 protein, human
0
Fibrillin-2
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
778-782Subventions
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/R008221/1
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.