Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion

Ophthalmic Genet. 2013 Dec;34(4):243-8. doi: 10.3109/13816810.2012.755631. Epub 2013 Feb 1.

Abstract

Purpose: To present the results of the clinical and molecular analyses of a familial case of Wolfram Syndrome (WFS) associated with a novel ocular anomaly.

Methods: Full ophthalmologic examination was performed in two WFS siblings. Visante OCT imaging was used for assessing anterior segment anomalies. Genetic analysis included PCR amplification and exon-by-exon nucleotide sequencing of the WFS1 gene.

Results: Ocular anomalies in both affected siblings included congenital cataract, glaucoma, and optic atrophy. Interestingly, microspherophakia, a feature that has not been previously associated with WFS, was observed in both siblings. Genetic analysis disclosed a novel c.1525_1539 homozygous deletion in exon 8 of WFS1 in DNA from both affected patients.

Conclusions: The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Base Sequence
  • Chromosomes, Human, Pair 4 / genetics*
  • Exons / genetics
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Female
  • Humans
  • Lens, Crystalline / abnormalities*
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Deletion*
  • Siblings
  • Tomography, Optical Coherence
  • Wolfram Syndrome / diagnosis
  • Wolfram Syndrome / genetics*
  • Young Adult

Substances

  • Membrane Proteins
  • wolframin protein