Novel dominant distal titinopathy phenotype associated with copy number variation.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
revised:
28
06
2021
received:
17
02
2021
accepted:
12
07
2021
pubmed:
28
7
2021
medline:
24
2
2022
entrez:
27
7
2021
Statut:
ppublish
Résumé
The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete molecular analyses in patients. The CNV is the most proximal out-of-frame TTN variant reported and leads to aberrant splicing transcripts leading to a frameshift. In this case, the dominant effect would be due to dominant-negative and/or haploinsufficiency. Few CNV in TTN have been reported to date. Our data represent a novel phenotype-genotype association and provides hypotheses for its dominant effects.
Identifiants
pubmed: 34312993
doi: 10.1002/acn3.51434
pmc: PMC8419403
doi:
Substances chimiques
Connectin
0
TTN protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1906-1912Subventions
Organisme : Centre Hospitalier Régional Universitaire de Montpellier
ID : DRCI-GCS-MERRI
Organisme : AFM-Téléthon
ID : AFM 21384
Informations de copyright
© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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