Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
MLPA
hereditary hearing loss
molecular diagnosis
whole exome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
22 10 2020
22 10 2020
Historique:
received:
01
10
2020
revised:
15
10
2020
accepted:
20
10
2020
entrez:
27
10
2020
pubmed:
28
10
2020
medline:
23
7
2021
Statut:
epublish
Résumé
Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of
Identifiants
pubmed: 33105617
pii: genes11111237
doi: 10.3390/genes11111237
pmc: PMC7690429
pii:
doi:
Substances chimiques
Connexin 30
0
DNA, Mitochondrial
0
GJB2 protein, human
0
GJB6 protein, human
0
Connexin 26
127120-53-0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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