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Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

11 Nov 2016

Abstract excerpt

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...

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PMID: 27872819
DOI: 10.1016/j.ymgmr.2016.10.006

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