TABLE 3.

Characteristics of patients harbouring MARS mutations

	Van Meel [ 30 ]	Hadchouel [ 31, 32 ]	Sun [ 33 ]	Rips [ 34 ]	Abuduxikuer [ 35 ]	Alzaid [ 36 ]
Mutations# and location on the protein structure	F370L/I523T CAT	Y344C/A393T/ S567L/D605V CAT	D145N/F802S ABD/PBD	Y307C/R618C CAT	R299_S300insR/Q720# CAT/ABD	I285Y CAT
Subjects	1 male, age 1 month	15 males and 7 female, age 2.8 (0.5–72) months 3 males and 1 female, ages 2 (1–2.5) months 1 male, age 10 months 1 male and 1 female, age 3.6 years and 3.9 years	2 males, age 1 month	1 male, neonatal period	1 female, age 5 months	1 male, neonatal period
Country	USA	Réunion, n=22 Comoros n=4 Caucasian/Réunion n=1 Tunisia n=2	China	Israel from Jewish Moroccan/Tunisian/Persian descent	China	Saudi Arabia
Lung involvement	ILD¶	PAP	ILD, fibrosis¶	ILD with foamy macrophages	ILD, compatible with PAP on chest CT scan, no BAL	PAP
Other features	FTT, HMG, cholestasis, liver failure, hypothyroidism, anaemia, hypotonia, developmental delay, acidosis, aminoaciduria	FTT, HMG, cholestasis, anaemia, inflammation with hyperleukocytosis, thrombocytosis, and high IgG level, hypoalbuminaemia	FTT, anaemia HMG, liver failure, acidosis, hypotonia, developmental delay	Anaemia, hypothyroidism, HMG, cholestasis, liver failure, developmental delay, aminoaciduria	FTT, cholestasis, liver failure, HMG, inflammation, anaemia, thrombocytosis, hyperleukocytosis, prolonged fever, kidney stones, developmental delay, acetabular dysplasia	FTT, intermittent fever, hypotonia, HMG, hypoglycaemia, hypothyroidism, anaemia, thrombopenia
Last follow-up	Age 3.5 years, stable on TPN and nasal oxygen	Death: n=13, 1.5 (0.4–25.2) years Asymptomatic: n=6, 6.3 (4.2–18.1) years Symptomatic no oxygen: n=2, 5.2 and 22.3 years CRF+: n=8, 10.6 (1.1–24.9) years	Death: n=1 at 9 months Stable: n=1 at 4.2 years	Age 1 year, improvement under methionine supplementation	Death at 11 months	Death at 6 months
Functional studies	Reduced aminoacylation activity, normal association with MSC	Reduced aminoacylation activity, normal association with MSC	None	Growth arrest in mutated yeast	None	None

Data are presented as median (min–max), unless otherwise stated. CAT: catalytic domain; ABD: anticodon-binding domain; PBD: protein-binding domain; ILD: interstitial lung disease; CT: computed tomography; PAP: pulmonary alveolar proteinosis; BAL: bronchoalveolar lavage; FTT: failure to thrive; HMG: hepatomegaly; Ig immunoglobulin; MSC: multiaminoacyl-tRNA synthetase complex; TPN: total parenteral nutrition; CRF: chronic respiratory failure. ^#: protein nomenclature is given; ^¶: no imaging or pathological data given; ⁺: chronic respiratory failure with oxygen therapy either continuous, nocturnal or on exertion.