title: Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
abstract: Peroxisomal biogenesis disorders (PBD) are caused by mutations inPEXgenes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function.
authors.affiliation: School of Medicine, Baylor College of Medicine, Houston, TX 77030, United States.
authors.forename: Meredith J
authors.initials: MJ
authors.lastname: Ventura
authors.affiliation: Department of Ophthalmology, University of Texas Southwestern, Dallas, TX 75390, United States; Retina Foundation of the Southwest, Dallas, TX 75231, United States.
authors.forename: Dianna
authors.initials: D
authors.lastname: Wheaton
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States.
authors.forename: Mingchu
authors.initials: M
authors.lastname: Xu
authors.affiliation: Department of Ophthalmology, University of Texas Southwestern, Dallas, TX 75390, United States; Retina Foundation of the Southwest, Dallas, TX 75231, United States.
authors.forename: David
authors.initials: D
authors.lastname: Birch
authors.affiliation: Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX 77030, United States.
authors.forename: Sara J
authors.initials: SJ
authors.lastname: Bowne
authors.affiliation: Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX 77030, United States.
authors.forename: Lori S
authors.initials: LS
authors.lastname: Sullivan
authors.affiliation: Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX 77030, United States.
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Daiger
authors.affiliation: Digestive Health Associates of Texas, 7777 Forest Lane B304, Dallas, TX 75230, United States.
authors.forename: Annette E
authors.initials: AE
authors.lastname: Whitney
authors.affiliation: Kennedy Krieger Institute, Baltimore, MD 21205, United States.
authors.forename: Richard O
authors.initials: RO
authors.lastname: Jones
authors.affiliation: Kennedy Krieger Institute, Baltimore, MD 21205, United States.
authors.forename: Ann B
authors.initials: AB
authors.lastname: Moser
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States.
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States; Texas Children's Neurological Research Institute, Houston, TX 77030, United States.
authors.forename: Michael F
authors.initials: MF
authors.lastname: Wangler
keywords: PEX1 p.G843D; Peroxisomal biogenesis disorders; Usher syndrome; Zellweger syndrome spectrum