A homozygous mutation in <i>PEX16</i> identified by whole-exome sequencing ending a diagnostic odyssey.

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/26644994
Author: 
Wangler MF
Author List: 
Bacino C
Chao YH
Seto E
Lotze T
Xia F
Jones RO
Moser A
Wangler MF
Journal: 
Mol Genet Metab Rep
PubMed ID: 
26644994
Pagination: 
15-18
Volume: 
5
Abstract: 
We present a patient with a unique neurological phenotype with a progressive neurodegenerative phenotype. 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 next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders.
Published Date: 
December, 2015

Bradley L. Schlaggar, M.D., Ph.D., Named President and CEO of Kennedy Krieger Institute

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