A new familial case of Jalili syndrome caused by a novel mutation in CNNM4

Ophthalmic Genet. Mar-Apr 2017;38(2):161-166. doi: 10.3109/13816810.2016.1164192. Epub 2016 Apr 12.

Abstract

Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogenesis imperfecta. To date, 18 families with JS have been reported, 16 of which were found to have a mutation in CNNM4. We describe three siblings with clinical features of JS with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). They demonstrated phenotypic variability in terms of ocular and dental findings. Although fundus examination and optical coherence tomography results were normal, the electroretinogram was compatible with CRD, supporting the diagnosis of JS. The dental phenotype severity also varied among the siblings.

Keywords: CNNM4; Jalili syndrome; missense mutation; novel.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amelogenesis Imperfecta / diagnosis
  • Amelogenesis Imperfecta / genetics*
  • Cation Transport Proteins / genetics*
  • Child
  • Cone-Rod Dystrophies
  • Consanguinity
  • Electroretinography
  • Exons / genetics
  • Female
  • Homozygote
  • Humans
  • Mutation, Missense*
  • Pedigree
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Siblings
  • Visual Acuity / physiology

Substances

  • CNNM4 protein, human
  • Cation Transport Proteins
  • Jalili syndrome