PMC6357678_01
The distinctive facial dysmorphisms of a Coffin-Lowry syndrome boy. A side view of the patient's face (B), prominent ears, widely spaced eyes, down slanted palpebral fissures, short nose with broad columella, thick alae nasi and septum, thick and everted underlip (A,C). (D) The hands are short and with puffy tapered finger, small terminal phalanges, and nails.
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F1
The facial appearance presents bulging forehead, prominent ears, widely spaced eyes, down slanted palpebral fissures, short nose with broad columella, thick alae nasi and septum, thick and everted underlip (Figures 1A,B). The deciduous teeth were erupted at 8 months old (not delayed) (Figure 1C). The hands are short, fleshy, and with remarkably hyperextensible fingers that taper from wide to narrow with small terminal phalanges and nails (Figures 1D, 2D).
The magnetic resonance imaging (MRI) and X-ray images of the Coffin-Lowry syndrome case. (A) The MRI of cerebral development; (B,C) Cervical and spinal canal X-ray photographs. (D) Nodular hyperplasia of finger tail end.
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F2
The hands are short, fleshy, and with remarkably hyperextensible fingers that taper from wide to narrow with small terminal phalanges and nails (Figures 1D, 2D). But there was no deformity of his foramen magnum or spine column (Figures 2B,C). The magnetic resonance imaging (MRI) showed the dilation of bilateral ventricles and less cerebral white matter (Figure 2A).
Sanger sequencing validation for the mutation of RPS6KA3 in the proband at chromosome Xp22. A mutation of c.2185 C > T was detected in imprinting control region from allele 290-300, which was not detected in proband's mother.
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F3
T at chrX20173554 was detected in the proband, which can cause p.Arg729Trp mutation and RSK2 instability (Figure 3). Subsequent analysis did not detect the same point mutation in other family members including mother, brother (Supplementary Material). This indicated that the micromutation is new but not inherited from the mother.