Article
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
Neurogenetics - 1 Oct 2016
Edvardson Simon, Elbaz-Alon Yael, Jalas Chaim, Matlock Ashanti, Patel Krishna, Labbé Katherine, Shaag Avraham, Jackman Jane E, Elpeleg Orly
Abstract excerpt
Autosomal-recessive cerebellar atrophy is usually associated with inactivating mutations and early-onset presentation. The underlying molecular diagnosis suggests the involvement of neuronal survival pathways, but many mechanisms are still lacking and most patients elude genetic diagnosis. Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like)...
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