Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Serena GalosiCecilia ManciniAnna CommonePaolo CalligariViviana CaputoFrancesca NardecchiaClaudia CarducciLambertus P van den HeuvelSimone PizziAlessandro BrusellesMarcello NicetaSimone MartinelliRichard J RodenburgMarco TartagliaVincenzo Leuzzi

Published in: Movement disorders : official journal of the Movement Disorder Society (2024)

Our findings point to MRPS36 as a new disease gene implicated in Leigh syndrome. The slight elevation of plasma levels of glutamate and glutamine observed in patients with OGDHC deficiency represents a candidate metabolic signature of this neurometabolic disorder. © 2024 International Parkinson and Movement Disorder Society.

Keyphrases

copy number
case report
intellectual disability
gene expression
autism spectrum disorder
genome wide identification
genome wide analysis