Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Meredith J. Ventura, Dianna Wheaton, Mingchu Xu, David Birch, Sara J. Bowne, Lori S. Sullivan, Stephen P. Daiger, Annette E. Whitney, Richard O Jones, Ann B. Moser, Rui Chen, Michael F. Wangler

Research output: Contribution to journalArticle

Abstract

Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function.

Original languageEnglish (US)
Pages (from-to)75-78
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume9
DOIs
Publication statusPublished - Dec 1 2016

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Keywords

  • Peroxisomal biogenesis disorders
  • PEX1 p.G843D
  • Usher syndrome
  • Zellweger syndrome spectrum

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Ventura, M. J., Wheaton, D., Xu, M., Birch, D., Bowne, S. J., Sullivan, L. S., ... Wangler, M. F. (2016). Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. Molecular Genetics and Metabolism Reports, 9, 75-78. https://doi.org/10.1016/j.ymgmr.2016.10.006