CHARGE syndrome associated with de novo (I1460Rfs^*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney.

ABSTRACT: 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 de novo pathogenic variant, c.4379_4380del (p.Ile1460Argfs^*15), was identified in exon 19 of the CHD7 gene, which

SUBMITTER: Gug C 

PROVIDER: S-EPMC7271729 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature