Work

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Year: 2016

Type: article

Study design: Case Report

Abstract: 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.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2016.10.006

Authors: 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

Institutions: Baylor College of Medicine, Retina Foundation of the Southwest, The University of Texas Southwestern Medical Center, The University of Texas Health Science Center at Houston, Digestive Health Associates of Texas, Kennedy Krieger Institute

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,400

Funders: Simmons Family Foundation, Hermann Eye Fund, Oogfonds, National Institutes of Health, National Human Genome Research Institute, National Eye Institute, National Institute of Neurological Disorders and Stroke

Awards: Neuronal Mechanisms of Peroxisomal Biogenesis Defects in Drosophila, DNA Linkage Studies of Degenerative Retinal Diseases, Genomic medicine and gene function implementation for an underserved population

OpenAlex ID: W2550032168

FWCI: 3.879

Cites: 35

Cited by: 36

Related to: 10