Article
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
Clinical genetics - 1 Jan 2017
Nguyen M, Boesten I, Hellebrekers D M E I, Mulder-den Hartog N M, de Coo I F M, Smeets H J M, Gerards M
Abstract excerpt
The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. Here, we describe a Moroccan girl of consanguineous parents with optic atrophy and cerebellar atrophy. Exome sequencing revealed a novel homozygous mutation (c.283+3G>T) in the donor...
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