Article
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
European journal of human genetics : EJHG - 1 Aug 2014
Spiegel Ronen, Mandel Hanna, Saada Ann, Lerer Issy, Burger Ayala, Shaag Avraham, Shalev Stavit A, Jabaly-Habib Haneen, Goldsher Dorit, Gomori John M, Lossos Alex, Elpeleg Orly, Meiner Vardiella
Abstract excerpt
C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis.We used whole-genome homozygosity mapping as well as exome sequencing and targeted gene sequencing to identify novel C12orf65 disease-causing mutations in seven...
Topics
- Adolescent
- Adult
- Alternative Splicing
- Amino Acid Sequence
- Brain
- Child
- Consanguinity
- DNA Mutational Analysis
- Electron Transport Complex IV
- Female
- Genetic Association Studies
- Humans
- Magnetic Resonance Imaging