CHARGE syndrome associated with
CHARGE syndrome
CHD7 gene
arteria lusoria
frameshift mutation
horseshoe kidney
Journal
Experimental and therapeutic medicine
ISSN: 1792-0981
Titre abrégé: Exp Ther Med
Pays: Greece
ID NLM: 101531947
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
11
09
2019
accepted:
02
03
2020
entrez:
9
6
2020
pubmed:
9
6
2020
medline:
9
6
2020
Statut:
ppublish
Résumé
CHARGE syndrome is an autosomal dominant condition caused by mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene. The present study reported on the case of a 16-month-old female with plurimalformative syndrome, whose etiology was identified by clinical whole-exome sequencing (WES) analysis. Clinical and follow-up assessments identified multiple craniofacial dysmorphisms, congenital defects and functional symptoms, including dysphagia and Marcus Gunn jaw winking synkinesis. Trio-WES analysis was performed for the patient and their parents and the presence of CHARGE syndrome was further indicated using single-molecule real-time sequencing. A
Identifiants
pubmed: 32509017
doi: 10.3892/etm.2020.8683
pii: ETM-0-0-8683
pmc: PMC7271729
doi:
Types de publication
Journal Article
Langues
eng
Pagination
479-485Informations de copyright
Copyright: © Gug et al.
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