Article
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
American journal of human genetics - 4 Nov 2021
Hochberg Irit, Demain Leigh A M, Richer Julie, Thompson Kyle, Urquhart Jill E, Rea Alessandro, Pagarkar Waheeda, Rodríguez-Palmero Agustí, Schlüter Agatha, Verdura Edgard, Pujol Aurora, Quijada-Fraile Pilar, Amberger Albert, Deutschmann Andrea J, Demetz Sandra, Gillespie Meredith, Belyantseva Inna A, McMillan Hugh J, Barzik Melanie, Beaman Glenda M, Motha Reeya, Ng Kah Ying, O'Sullivan James, Williams Simon G, Bhaskar Sanjeev S, Lawrence Isabella R, Jenkinson Emma M, Zambonin Jessica L, Blumenfeld Zeev, Yalonetsky Sergey, Oerum Stephanie, Rossmanith Walter, Yue Wyatt W, Zschocke Johannes, Munro Kevin J, Battersby Brendan J, Friedman Thomas B, Taylor Robert W, O'Keefe Raymond T, Newman William G
Abstract excerpt
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. Pathogenic variants in TRMT10C and SDR5C1 are associated with distinct recessive or x-linked infantile onset disorders, resulting from defects in mitochondrial RNA processing. We...
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