Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report

Table 2 Clinical and genetic findings of patients with IARS1 mutations

No.	Ethnic	Sex	ALV	AO	IARS1 mutations	Clinical features
					cDNA;protein	Growth Retardation	Intellectual Disability	Muscular Hypotonia	Infantile Hepatopathy	Other features
P1 [3]	German	M	18.7y	Prenatal (IUGR)	c.[1252C>T], [3521T>A]; p.[Arg418^a],[lle117Asn]	+	+	+	+	zinc deficiency, recurrent infections, esophagitis, microcephaly.
P2 [3]	Japanese	F	19y	Prenatal (IUGR)	c.[760C>T], [1310C>T]; p.[Arg254^a], [Pro437Leu]	+	+	⁃	+	zinc deficiency, diabetes mellitus, sensoneurinal hearing loss, epilepsy.
P3 [3]	Austrian	M	3y	Prenatal (IUGR)	c.[1109T>G], [2974A>G]; p.[Val370Gly],[Asn992Asp]	+	+	+	+	zinc deficiency, recurrent infections, recurrent liver crises triggered by infections, chubby cheeks, microcephaly.
P4 [4]	Israeli Arab	M	4y	Prenatal (IUGR)	c.[2215C>T], [1667T>C]; p.[Arg739Cys],[Phe556Ser]	+	+	⁃	+	zinc normal, hydronephrosis, joint hyperlaxity, hyperelastic, doughy-like and transparent skin, microcephaly.
P5 [5]	Polish	M	7y	Prenatal (IUGR)	c.[2011delC], [206C>T]; p.[Gln671fs],[Thr69lle]	+	+	+	+	zinc deficiency, recurrent infections, drumstick fingers
P6^a	Chinese	F	1.58y	Prenatal (IUGR)	c.[701T>C], c.[1555C>T]; p.[L234P], p.[R519C]	+	+	+	+	zinc normal, recurrent infections, recurrent liver failure triggered by infections, microcephaly, chubby cheeks, hyperelastic skin, vitamin D deficiency

Abbreviation: M Male, F female, ALV Age at last visit, AO Age of onset, IUGR Intrauterine growth retardation. ^aP6 is the present patient

ISSN: 1471-2431