English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Background  Verheij syndrome is a rare microdeletion syndrome of chromosome 8q24.3 that harbors  PUF60 ,  SCRIB , and  NRBP2  genes. Subsequently, loss of function mutations in  PUF60  have been found in children with clinical features significantly overlapping with Verheij.    Case presentation  Here we present the first Chinese Han patient with a de novo nonsense variant (c.1357C > T, p.Gln453*) in  PUF60  by clinical whole exome sequencing. The 5-year-old boy presents with dysmorphic facial features, intellectual disability, and growth retardation but without apparent cardiac, renal, ocular, and spinal anomalies.    Conclusions  Our finding contributes to the understanding of the genotype and phenotype in  PUF60  related disorder.

Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature