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Case Reports
. 2016 Nov 11:9:75-78.
doi: 10.1016/j.ymgmr.2016.10.006. eCollection 2016 Dec.

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Meredith J Ventura  1 , Dianna Wheaton  2 , Mingchu Xu  3 , David Birch  2 , Sara J Bowne  4 , Lori S Sullivan  4 , Stephen P Daiger  4 , Annette E Whitney  5 , Richard O Jones  6 , Ann B Moser  6 , Rui Chen  3 , Michael F Wangler  7
Affiliations
Case Reports

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Meredith J Ventura et al. Mol Genet Metab Rep. .

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.

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

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Figures

Fig. 1
Fig. 1
A. The patient at 8 years of age. B–G. Optical coherence tomography shows cystoid macular edema and absence of photoreceptor layer compared to age matched controls. H. The patient's clinical characteristics compared to mild and severe peroxisome biogenesis disorder Zellweger spectrum (PBD-ZSS) phenotypes and Usher syndrome. I. Red bold values indicate results outside of normal control range. For C22:0, C24:0, C26:0, C24/C22 ratio, and C26/C22 ratio, the patient's result is shown, and the mean ± standard deviation is shown for normal controls and PBD-ZSS. For C16:0DMA/C16:0 fatty acid and C18:0DMA/C18:0 fatty acid ratios, patient's mean is shown, and a range is shown for normal controls and PBS-ZSS. For C26:0 Lyso-PC, the patient's result is shown, and a range is shown for normal controls and PBD-ZSS. C26:0 Lyso-PC values are reported in pmole per 1/8th inch dried whole venous blood spot.
See this image and copyright information in PMC

References

    1. Braverman N.E., D’Agostino M.D., Maclean G.E. Peroxisome biogenesis disorders: biological, clinical and pathophysiological perspectives. Dev. Disabil. Res. Rev. 2013;17:187–196. - PubMed
    1. Wanders R.J.A. Metabolic and molecular basis of peroxisomal disorders: a review. Am. J. Med. Genet. A. 2004;126A:355–375. - PubMed
    1. Ebberink M.S., Mooijer P.A.W., Gootjes J., Koster J., Wanders R.J.A., Waterham H.R. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum. Mutat. 2011;32:59–69. - PubMed
    1. Yik W.Y., Steinberg S.J., Moser A.B., Moser H.W., Hacia J.G. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. Hum. Mutat. 2009;30:E467–E480. - PMC - PubMed
    1. Reuber B.E., Germain-Lee E., Collins C.S., Morrell J.C., Ameritunga R., Moser H.W., Valle D., Gould S.J. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat. Genet. 1997;17:445–448. - PubMed

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