Article
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
Human genetics - 1 Jul 2016
Shaheen Ranad, Han Lu, Faqeih Eissa, Ewida Nour, Alobeid Eman, Phizicky Eric M, Alkuraya Fowzan S
Abstract excerpt
Intellectual disability is a common and highly heterogeneous disorder etiologically. In a multiplex consanguineous family, we applied autozygosity mapping and exome sequencing and identified a novel homozygous truncating mutation in PUS3 that fully segregates with the intellectual disability phenotype. Consistent with the known role of Pus3 in isomerizing uracil to pseudouridine at positions 38 and 39 in tRNA, we...
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