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

doi:10.1016/j.ymgmr.2016.10.006

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

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 language	English (US)
Pages (from-to)	75-78
Number of pages	4
Journal	Molecular Genetics and Metabolism Reports
Volume	9
DOIs	https://doi.org/10.1016/j.ymgmr.2016.10.006
State	Published - Dec 1 2016

Keywords

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

ASJC Scopus subject areas

Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgmr.2016.10.006

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title = "Diagnosis of a mild peroxisomal phenotype with next-generation sequencing",

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",

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

note = "Funding Information: The authors thank the family for their participation. This study was funded by NIH K08NS076547 to MFW, the Simmons Family Foundation Collaborative Research Grant , the Clayton Murphy Peroxisomal Disorders Research Grant , NIH EY007142 , the Hermann Eye Fund , and the William Stamps Farish Fund . Publisher Copyright: {\textcopyright} 2016 The Authors",

year = "2016",

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day = "1",

doi = "10.1016/j.ymgmr.2016.10.006",

language = "English (US)",

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AU - Ventura, Meredith J.

AU - Wheaton, Dianna

AU - Xu, Mingchu

AU - Birch, David

AU - Bowne, Sara J.

AU - Sullivan, Lori S.

AU - Daiger, Stephen P.

AU - Whitney, Annette E.

AU - Jones, Richard O.

AU - Moser, Ann B.

AU - Chen, Rui

AU - Wangler, Michael F.

N1 - Funding Information: The authors thank the family for their participation. This study was funded by NIH K08NS076547 to MFW, the Simmons Family Foundation Collaborative Research Grant , the Clayton Murphy Peroxisomal Disorders Research Grant , NIH EY007142 , the Hermann Eye Fund , and the William Stamps Farish Fund . Publisher Copyright: © 2016 The Authors

PY - 2016/12/1

Y1 - 2016/12/1

N2 - 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.

AB - 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.

KW - PEX1 p.G843D

KW - Peroxisomal biogenesis disorders

KW - Usher syndrome

KW - Zellweger syndrome spectrum

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Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Abstract

Keywords

ASJC Scopus subject areas

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