Aberrant Splicing Events Associated to
CDH23
Usher syndrome
functional analysis
phenotypic effects
splice site variants
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
21 09 2019
21 09 2019
Historique:
received:
04
09
2019
revised:
17
09
2019
accepted:
19
09
2019
entrez:
25
9
2019
pubmed:
25
9
2019
medline:
17
3
2020
Statut:
epublish
Résumé
The aim of this study was the genetic diagnosis by next generation sequencing (NGS) of a patient diagnosed with Usher syndrome type 2 and the functional evaluation of the identified genetic variants to establish a phenotype-genotype correlation. Whole exome sequencing (WES) analysis identified two heterozygous intronic variants in Two intronic variants were identified in intron 45 of A combination of in vivo and in vitro assays provided a comprehensive view of the physiological effects of NCSS variants, which in this case led to a clinical reassignment of the proband as affected with atypical USH1 syndrome.
Identifiants
pubmed: 31546658
pii: genes10100732
doi: 10.3390/genes10100732
pmc: PMC6826400
pii:
doi:
Substances chimiques
CDH23 protein, human
0
Cadherin Related Proteins
0
Cadherins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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