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Fig. 3 | BMC Pediatrics

Fig. 3

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

Fig. 3

R519C and L234P variants lead to loss of function of the IARS1 gene in the zebrafish model. a High doses of IARS1 and its variant mRNAs (60 pg) produced a high rate of embryonic death and severe embryonic deformities. b, c IARS1 R519C and L234P caused a loss of gene function of IARS1 during zebrafish embryogenesis. IARS1 variations in mRNA failed to impair embryo development (b), myogenesis, neurodevelopment, and liver development (c). Live embryos and fobp1a expression at 3 dpf; sox3 and myod expression at 24 hpf stage, all embryos shown are lateral views anterior to the left. The percentages and numbers indicated in each picture are the ratio of the number (left in bracket) of affected embryos with phenotypes similar to what is shown in the picture and the total number (right in bracket) of observed embryos

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BMC Pediatrics

ISSN: 1471-2431

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