Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Mol Genet Metab Rep. 2016 Nov 11:9:75-78. doi: 10.1016/j.ymgmr.2016.10.006. eCollection 2016 Dec.


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.

Keywords: PEX1 p.G843D; Peroxisomal biogenesis disorders; Usher syndrome; Zellweger syndrome spectrum.

Publication types

  • Case Reports