PMC8527088_01
(A) The graphs show the height and weight of the patient during the treatment course. (B) The patient had woolly and brittle hair. (C) The compound-heterozygous SKIV2L mutations. The frameshift mutation with maternal origin, c.3602_3609delAGCGCCTG (p.Q1201Rfs*2), and missense mutation with paternal origin, c.1990A > G (p.T664A), were identified in the patient. (D) Threonine 664 is highly conserved across species. The level of conservation is indicated by symbols *, and from considerably conserved to relatively conserved.
fgene-12-756451-g001.jpg
PMC8527088_01_fgene-12-756451-g001.jpg
F1
She received mixed feeding (regular formula and breast milk) at birth but was stunted at 1.5 months of age (height, 50 cm, below the 3rd percentile; weight, 3.16 kg, below the 3rd percentile) (Figure 1A). Her hair was short and sparse (woolly and brittle) (Figure 1B).