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A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Year: 2015

Type: article

Study design: Case Report

Abstract: We present a patient with a unique neurological phenotype with a progressive neurodegenerative. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous PEX16 mutation suggesting an atypical peroxisomal biogenesis disorder (PBD). Interestingly, the patient's peroxisomal biochemical abnormalities were subtle, such that plasma very-long-chain fatty acids initially failed to provide a diagnosis. This case suggests that next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2015.09.001

Authors: Carlos A. Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O. Jones, Ann Moser, Michael F. Wangler

Institutions: Baylor College of Medicine, Texas Children's Hospital, 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, National Institutes of Health, National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G2922423489, Neuronal Mechanisms of Peroxisomal Biogenesis Defects in Drosophila, G8350792860, G9000056579, G9000329170

OpenAlex ID: W2192912659

FWCI: 2.186

Cites: 29

Cited by: 22

Related to: 10