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

BMC Med Genomics. 2018 Oct 23;11(1):92. doi: 10.1186/s12920-018-0421-3.

Abstract

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.

Keywords: Chinese Han patient; Intellectual disability; PUF60; Verheij syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Child, Preschool
  • China
  • Chromosomes, Human, Pair 3
  • Exome Sequencing
  • Gene Deletion
  • Heterozygote
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Pedigree
  • RNA Splicing Factors / genetics*
  • Repressor Proteins / genetics*

Substances

  • RNA Splicing Factors
  • Repressor Proteins
  • poly-U binding splicing factor 60KDa