title: Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novoOPA3mutation.
abstract: We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominantOPA3mutations.
authors.affiliation: Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada.
authors.forename: Stephanie C
authors.initials: SC
authors.lastname: Bourne
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.|Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
authors.forename: Katelin N
authors.initials: KN
authors.lastname: Townsend
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.|Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
authors.forename: Casper
authors.initials: C
authors.lastname: Shyr
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.|Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
authors.forename: Allison
authors.initials: A
authors.lastname: Matthews
authors.affiliation: Faculty of Health Sciences, Simon Fraser University, Vancouver, British Columbia V5A 1S6, Canada.
authors.forename: Scott A
authors.initials: SA
authors.lastname: Lear
authors.affiliation: AIM Medical Imaging, Vancouver, British Columbia V6H 1C9, Canada.
authors.forename: Raj
authors.initials: R
authors.lastname: Attariwala
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
authors.forename: Anna
authors.initials: A
authors.lastname: Lehman
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.|Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
authors.forename: Wyeth W
authors.initials: WW
authors.lastname: Wasserman
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.|Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
authors.forename: Clara
authors.initials: C
authors.lastname: van Karnebeek
authors.affiliation: Department of Pathology, British Columbia Children's Hospital, Vancouver, British Columbia V6H 3N1, Canada.
authors.forename: Graham
authors.initials: G
authors.lastname: Sinclair
authors.affiliation: Department of Pathology, British Columbia Children's Hospital, Vancouver, British Columbia V6H 3N1, Canada.
authors.forename: Hilary
authors.initials: H
authors.lastname: Vallance
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.|Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
authors.forename: William T
authors.initials: WT
authors.lastname: Gibson
keywords: ataxia; congenital nuclear cataract; progressive peripheral neuropathy