A Case of Verheij Syndrome Caused by PUF60 de novo Mutuation
WU Yuhua
SHEN Zhengzheng
CHEN Min
Abstract：A girl with Verheij syndrome was referred to ENT services for"snoring and hearing loss".She had growth hormone injections for development delay and had undergone operations for congenital ventricular septal defect and patent ductus arteriosus and for scoliosis correction.Genetic testing revealed c.402delC heterozygous mutation lo-cated in poly U binding splicing factor 60(PUF60)inducing frameshift mutation.Her snoring improved on anti-allergic drugs,with no improvement in conductive hearing loss.Hearing aids were recommended and follow-up continues.
Keywords：Verheij syndromePUF60 geneConductive hearing loss
Publication Date：2023-10-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 756-761 )