@article{6b63c3df348d4d7b826045a2143d8360,
title = "A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey",
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.",
keywords = "Ataxia, Functional genomics, PEX16, Peroxisomal biogenesis",
author = "Bacino, {Carlos A.} and Chao, {Yu Hsin} and Elaine Seto and Tim Lotze and Fan Xia and Jones, {Richard O.} and Ann Moser and Wangler, {Michael F.}",
note = "Funding Information: The authors thank Ann Snowden at KKI for cell culture technical support and Hugo Bellen for helpful advice in data analysis. Cell culture work funded by the Intellectual and Developmental Disability Research Center 1 U54 HD079123-01A1 at KKI PI: Wayne Silverman funded by: NICHD. M.W. was supported by NIH K08NS076547 funded by NINDS, and Funding from the Simmons Family Foundation Collaborative Research Fund and the Clayton Murphy Peroxisomal Disorders Research Fund at Baylor College of Medicine. Publisher Copyright: {\textcopyright} 2015 The Authors.",
year = "2015",
month = dec,
day = "1",
doi = "10.1016/j.ymgmr.2015.09.001",
language = "English (US)",
volume = "5",
pages = "15--18",
journal = "Molecular Genetics and Metabolism Reports",
issn = "2214-4269",
publisher = "Elsevier BV",
}