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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 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.

SUBMITTER: Bacino C 

PROVIDER: S-EPMC4669579 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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

Bacino Carlos C   Chao Yu-Hsin YH   Seto Elaine E   Lotze Tim T   Xia Fan F   Jones Richard O RO   Moser Ann A   Wangler Michael F MF  

Molecular genetics and metabolism reports 20151201

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 <i>PEX16</i> 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  ...[more]

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