PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1

Am J Med Genet A. 2019 Jun;179(6):1030-1033. doi: 10.1002/ajmg.a.61127. Epub 2019 Mar 23.

Abstract

PUM1 has been very recently reported as responsible for a new form of developmental disorder named PADDAS syndrome. We describe here an additional patient with early onset developmental delay, epilepsy, microcephaly, and hair dysplasia, with a de novo heterozygous missense variant of PUM1: c.3439C > T, p.(Arg1147Trp). This variant was absent from databases and predicted deleterious by multiple softwares. The same missense variant has been reported by Gennarino et al., in a girl with much more severe epilepsy. Our report is in favor of a variable expressivity of PADDAS syndrome, and broadens the phenotypic spectrum with the description of hair dysplasia.

Keywords: PUM1; hair dysplasia; intellectual disability; whole-exome sequencing.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics*
  • Epilepsy / diagnosis
  • Epilepsy / genetics
  • Female
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Humans
  • Hypotrichosis / diagnosis
  • Hypotrichosis / genetics
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics
  • Mutation, Missense*
  • Phenotype*
  • RNA-Binding Proteins / genetics*
  • Syndrome

Substances

  • PUM1 protein, human
  • RNA-Binding Proteins