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Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C. van Diemen CC, et al. Pediatrics. 2017 Oct;140(4):e20162854. doi: 10.1542/peds.2016-2854. Pediatrics. 2017. PMID: 28939701 Clinical Trial.
We identified compound heterozygous mutations in the EPG5 gene (Vici syndrome), the RMND1 gene (combined oxidative phosphorylation deficiency-11), and the EIF2B5 gene (vanishing white matter), and homozygous mutations in the KLHL41 gene (nemaline myopa …
We identified compound heterozygous mutations in the EPG5 gene (Vici syndrome), the RMND1 gene (combined oxidative phosphor …
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M. Raviglione F, et al. Am J Med Genet A. 2016 Nov;170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23. Am J Med Genet A. 2016. PMID: 27549011
The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. . …
The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative …