title: A homozygous mutation inPEX16identified 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 homozygousPEX16mutation 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.
authors.affiliation: Department of Molecular and Human Genetics, BCM, Houston, TX, 77030 ; Texas Children's Hospital, Houston TX.
authors.forename: Carlos
authors.initials: C
authors.lastname: Bacino
authors.affiliation: Department of Molecular and Human Genetics, BCM, Houston, TX, 77030.
authors.forename: Yu-Hsin
authors.initials: YH
authors.lastname: Chao
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, BCM, Houston TX ; Texas Children's Hospital, Houston TX.
authors.forename: Elaine
authors.initials: E
authors.lastname: Seto
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, BCM, Houston TX ; Texas Children's Hospital, Houston TX.
authors.forename: Tim
authors.initials: T
authors.lastname: Lotze
authors.affiliation: Department of Molecular and Human Genetics, BCM, Houston, TX, 77030.
authors.forename: Fan
authors.initials: F
authors.lastname: Xia
authors.affiliation: Kennedy Krieger Institute, Baltimore Maryland.
authors.forename: Richard O
authors.initials: RO
authors.lastname: Jones
authors.affiliation: Kennedy Krieger Institute, Baltimore Maryland.
authors.forename: Ann
authors.initials: A
authors.lastname: Moser
authors.affiliation: Department of Molecular and Human Genetics, BCM, Houston, TX, 77030 ; Texas Children's Hospital, Houston TX.
authors.forename: Michael F
authors.initials: MF
authors.lastname: Wangler
keywords: Functional genomics; PEX16; ataxia; peroxisomal biogenesis