Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 9, Issue -, Pages 75-78Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ymgmr.2016.10.006
Keywords
PEX1 p.G843D; Zellweger syndrome spectrum; Peroxisomal biogenesis disorders; Usher syndrome
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Funding
- NIH [K08NS076547, EY007142]
- Simmons Family Foundation Collaborative Research Grant
- Clayton Murphy Peroxisomal Disorders Research Grant
- Hermann Eye Fund
- William Stamps Farish Fund
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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. (C) 2016 The Authors. Published by Elsevier Inc.
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