Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

Guo, Ruolan; Chen, Yuanying; Hu, Xuyun; Qi, Zhan; Guo, Jun; Li, Yuchuan; Hao, Chanjuan

doi:10.1186/s12920-023-01662-0

BMC Medical Genomics

Table 1 Summarized genotype and clinical phenotype of patients with mutations in FARSA gene

From: Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

Genotype and Clinical phenotype		FARSA subjects
		1	2	3			4				5	Σ
		P1	P2	P3	P4	P5	P6	P7	P8	P9	P10	Σ
Genotype of FARSA gene (variant 1, variant 2)		L391P R404H	F256L N410K	R404C E418D	R295W R295W	F277V F277V	R295W R295W		V356I V356I		R475Q P347L	-
Respiratory system	interstitial lung disease	•	•	•	•	•	•		•	•	•	9/10
	cholesterol pneumonitis		•	•	•	•	•		•			6/10
	pulmonary alveolar proteinosis				•		•		•			3/10
	cystic lung disease		•	•		•						3/10
	digital clubbing		•	•		•	•	•				5/10
Growth	failure to thrive	•	•	•	•	•	•	•	•	•	•	10/10
Growth	feeding difficulty/diarrhea	•	•		•		•	•			•	6/10
Liver	hepatomegaly/ hepatosplenomegaly	•	•	•	•		•		•	•	•	8/10
	abnormal liver values (blood)	•	•	•	•	•					•	6/10
	liver steatosis/ hyperechogenicity		•	•	•		•		•		•	6/10
Musculature	hypotonia	•	•	•	•						•	5/10
	decreased muscle mass		•			•						2/10
	abnormal muscle histology			•								1/10
Nervous system	neurodevelopmental/ speech delay	•		•	•				•	•	•	6/10
	headache			•								1/10
	microcephaly	•							•	•		3/10
	brain cysts		•			•						2/10
	brain calcifications		•								•	2/10
	white matter lesions			•			•		•	•		4/10
	brain aneurysm			•						•		2/10
Skeletal system	pectus carinatum/ excavatum		•	•								2/10
	joint hyperflexibility		•	•								2/10
	osteopenia			•	•							2/10
	Marfan-like syndrome		•	•								2/10
Endocrine system	growth hormone resistance/ deficiency			•		•						2/10
Endocrine system	hypothyroidism	•	•								•	3/10
Dysmorphic features	face/body appearance	•	•	•								3/10
Eye	abnormal eye movement				•							1/10
Ear	sensorineural hearing loss					•						1/10
Cardiovascular system	structural heart/vessel defects	•		•		•						3/10
Immune system	abnormal blood cell counts	•	•								•	3/10
	IgG deficiency				•							1/10
	hypoalbuminemia	•	•	•	•	•	•	•	•	•		9/10
	Chronic inflammation	•					•	•	•	•		5/10
Gastrointestinal tract	hernia		•									1/10
Urinary system	vesicoureteral reflux		•									1/10
	nephrolithiasis					•						1/10
	hyperphosphaturia				•							1/10
	tubulopathy				•						•	2/10
	proteinuria										•	1/10
Skin	poor wound healing			•								1/10
Skin	abnormal subcutaneous fat tissue		•		•							2/10

1 (Patient 1, P1), presented here; 2, (Patient 2, P2), Krenke. et al. presented; 3 (Patient 3–5, P3-P5), Schuch et al. presented; 4 (Patient 6–9, P6-P9), Charbit-Henrion et al. Presented; 5 (Patient 10, P10), Kin et al. presented. The dark spot reflects positivity, empty reflects negativity or unknown status

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ISSN: 1755-8794

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