Article
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Human mutation - 1 Feb 2018
Salpietro Vincenzo, Efthymiou Stephanie, Manole Andreea, Maurya Bhawana, Wiethoff Sarah, Ashokkumar Balasubramaniem, Cutrupi Maria Concetta, Dipasquale Valeria, Manti Sara, Botia Juan A, Ryten Mina, Vandrovcova Jana, Bello Oscar D, Bettencourt Conceicao, Mankad Kshitij, Mukherjee Ashim, Mutsuddi Mousumi, Houlden Henry
Abstract excerpt
We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events. DDX59 encodes a DEAD-box RNA helicase and its role in brain...
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