FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

doi:10.1016/j.ymgme.2018.07.014

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FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

Molecular genetics and metabolism - 1 Nov 2018

Almannai Mohammed, Wang Julia, Dai Hongzheng, El-Hattab Ayman W, Faqeih Eissa A, Saleh Mohammed A, Al Asmari Ali, Alwadei Ali H, Aljadhai Yaser I, AlHashem Amal, Tabarki Brahim, Lines Matthew A, Grange Dorothy K, Benini Ruba, Alsaman Abdulaziz S, Mahmoud Adel, Katsonis Panagiotis, Lichtarge Olivier, Wong Lee-Jun C

Abstract excerpt

An increasing number of mitochondrial diseases are found to be caused by pathogenic variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2 encodes mitochondrial phenylalanyl-tRNA synthetase (mtPheRS) which transfers phenylalanine to its cognate tRNA in mitochondria. Since the first case was reported in 2012, a total of 21 subjects with FARS2 deficiency have been reported to date with a...

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PMID: 30177229
DOI: 10.1016/j.ymgme.2018.07.014

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