case_images: PMC10731953_01
case_images: (A-C) photographs of the patient (at age of 16 months). In (A) the patient's photographs reveal pronounced microcephaly and distinctive dysmorphic facial features, characterized by a narrow forehead, prominent cheeks, a broad nasal bridge, and deeply set eyes. Notably, nystagmus was also observed (not shown). (B) Depicts the patient's normal ears. In (C) it is evident that both length and weight measurements fall below the 1%ile in growth chart.
case_images: fped-11-1282253-g001.jpg
case_images: PMC10731953_01_fped-11-1282253-g001.jpg
case_images: F1
case_images: Physical examination at the initial and follow up visit (at 16 months) revealed microcephaly and distinctive dysmorphic facial features, including a narrow forehead, prominent cheeks, a wide nasal bridge, and deep-set eyes (see Figures 1A,B). His length and weight measurements were both below the 1st percentile (see Figure 1C).
case_images: Family history documentation showing the proband and symptoms with positive genetic testing for compound heterozygous variants YARS1 p.Arg367Trp and p.Leu261Arg, as well as klinefelter syndrome confirmed by chromosome microarray. Mother and father with respective genetic testing and associated phenotypes.
case_images: fped-11-1282253-g002.jpg
case_images: PMC10731953_01_fped-11-1282253-g002.jpg
case_images: F2
case_images: Despite both parents being Hispanic, the family explicitly denied any consanguinity (see Figure 2.
case_images: YARS1 gene map showing 3 protein domains: catalytic N-terminal domain, tRNA anti-codon binding domain and the C-terminal EMAP-II-like domain. Associated YARS1 homozygous and compound heterozygous variants implicated in autosomal recessive multisystemic disease involving failure to thrive, developmental delay, muscular hypotonia, liver dysfunction, pulmonary disease, and hearing impairment as has been reported in the literature to date. Variants listed in this study are in blue. [Authorized adaptation from ].
case_images: fped-11-1282253-g003.jpg
case_images: PMC10731953_01_fped-11-1282253-g003.jpg
case_images: F3
case_images: T, p.Arg367Trp, paternally inherited) and a variant of uncertain significance (c.782T > G, Leu.L261Arg, maternally inherited) in the YARS1 gene (NM_003680.3) (See Figure 3). The YARS1 p.Arg367Trp variant has been described in ClinVar (ID:567612) which was first reported by Adverdunk as homozygous variant.