Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)

Metab Brain Dis. 2018 Jun;33(3):869-873. doi: 10.1007/s11011-018-0200-z. Epub 2018 Feb 11.


The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this study, we report on a novel homozygous mutation in UNC80 in a Palestinian-Emirati patient suffering infantile hypotonia with psychomotor retardation and characteristic facies. This mutation was detected by whole exome sequencing and confirmed using Sanger sequencing in the patient-parents trio. Numerous elements in the patient's phenotype were in agreement with the few reported cases of UNC80 mutations; however there are some notable differences. We present comprehensive clinical and molecular accounts of this mutation in addition to a full review of previously reported patients of UNC80 mutations.

Keywords: Emirati; Epilepsy; Intellectual disability; Novel mutation; Psychomotor retardation; UNC80 gene.

Publication types

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

MeSH terms

  • Adolescent
  • Carrier Proteins / genetics*
  • Epilepsy / genetics
  • Facies
  • Female
  • Homozygote
  • Humans
  • Intellectual Disability / genetics*
  • Membrane Proteins / genetics*
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics*
  • Mutation / genetics*
  • Pedigree
  • Phenotype


  • Carrier Proteins
  • Membrane Proteins
  • Unc80 protein, human