Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

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 he...

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Autores principales: Ventura, Meredith J., Wheaton, Dianna, Xu, Mingchu, Birch, David, Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Whitney, Annette E., Jones, Richard O., Moser, Ann B., Chen, Rui, Wangler, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109284/
https://www.ncbi.nlm.nih.gov/pubmed/27872819
http://dx.doi.org/10.1016/j.ymgmr.2016.10.006
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author Ventura, Meredith J.
Wheaton, Dianna
Xu, Mingchu
Birch, David
Bowne, Sara J.
Sullivan, Lori S.
Daiger, Stephen P.
Whitney, Annette E.
Jones, Richard O.
Moser, Ann B.
Chen, Rui
Wangler, Michael F.
author_facet Ventura, Meredith J.
Wheaton, Dianna
Xu, Mingchu
Birch, David
Bowne, Sara J.
Sullivan, Lori S.
Daiger, Stephen P.
Whitney, Annette E.
Jones, Richard O.
Moser, Ann B.
Chen, Rui
Wangler, Michael F.
author_sort Ventura, Meredith J.
collection PubMed
description 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.
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spelling pubmed-51092842016-11-21 Diagnosis of a mild peroxisomal phenotype with next-generation sequencing Ventura, Meredith J. Wheaton, Dianna Xu, Mingchu Birch, David Bowne, Sara J. Sullivan, Lori S. Daiger, Stephen P. Whitney, Annette E. Jones, Richard O. Moser, Ann B. Chen, Rui Wangler, Michael F. Mol Genet Metab Rep Case Report 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. Elsevier 2016-11-11 /pmc/articles/PMC5109284/ /pubmed/27872819 http://dx.doi.org/10.1016/j.ymgmr.2016.10.006 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Ventura, Meredith J.
Wheaton, Dianna
Xu, Mingchu
Birch, David
Bowne, Sara J.
Sullivan, Lori S.
Daiger, Stephen P.
Whitney, Annette E.
Jones, Richard O.
Moser, Ann B.
Chen, Rui
Wangler, Michael F.
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing
title Diagnosis of a mild peroxisomal phenotype with next-generation sequencing
title_full Diagnosis of a mild peroxisomal phenotype with next-generation sequencing
title_fullStr Diagnosis of a mild peroxisomal phenotype with next-generation sequencing
title_full_unstemmed Diagnosis of a mild peroxisomal phenotype with next-generation sequencing
title_short Diagnosis of a mild peroxisomal phenotype with next-generation sequencing
title_sort diagnosis of a mild peroxisomal phenotype with next-generation sequencing
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109284/
https://www.ncbi.nlm.nih.gov/pubmed/27872819
http://dx.doi.org/10.1016/j.ymgmr.2016.10.006
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