Details

Autor(en) / Beteiligte

• Bourne, Stephanie C
• Townsend, Katelin N
• Shyr, Casper
• Matthews, Allison
• Lear, Scott A
• Attariwala, Raj
• Lehman, Anna
• Wasserman, Wyeth W
• van Karnebeek, Clara
• Sinclair, Graham
• Vallance, Hilary
• Gibson, William T

Titel

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Ist Teil von

• Cold Spring Harbor molecular case studies, 2017-01, Vol.3 (1), p.a001156-a001156

Ort / Verlag

United States: Cold Spring Harbor Laboratory Press

Erscheinungsjahr

2017

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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 ( ) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant mutations.