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.


Journal Article

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.

Full Text

Cited Authors

  • Xu, Q; Li, C-Y; Wang, Y; Li, H-P; Wu, B-B; Jiang, Y-H; Xu, X

Published Date

  • October 23, 2018

Published In

Volume / Issue

  • 11 / 1

Start / End Page

  • 92 -

PubMed ID

  • 30352594

Pubmed Central ID

  • 30352594

Electronic International Standard Serial Number (EISSN)

  • 1755-8794

International Standard Serial Number (ISSN)

  • 1755-8794

Digital Object Identifier (DOI)

  • 10.1186/s12920-018-0421-3


  • eng