Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 5, Issue -, Pages 15-18Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ymgmr.2015.09.001
Keywords
Functional genomics; Peroxisomal biogenesis; PEX16; Ataxia
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Funding
- Intellectual and Developmental Disability Research Center at KKI PI: Wayne Silverman - NICHD [1 U54 HD079123-01A1]
- Simmons Family Foundation Collaborative Research Fund
- Clayton Murphy Peroxisomal Disorders Research Fund at Baylor College of Medicine
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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. (C) 2015 The Authors. Published by Elsevier Inc.
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