PMC6563654_01
Skin pigmentation and palmar creases. Higher skin pigmentation of the hand compared to parents at 3.5 months (A,B), a slight transverse palmar crease on the right hand (C) but not on the left hand (D). Changes in skin pigmentation at 0.7 months (E), 1.6 months (F), 3 months (F), and 4.9 months (H, 1.5 months after hydrocortisone therapy and resolution of cholestasis). Written informed consent was obtained from the parents for the publication of personal images.
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F1
The palmar crease, and the changes in skin pigmentation are presented in Figure 1. Table 3), and multiplex ligation-dependent probe amplification (MLPA) analysis of the CYP21A2 gene were performed by a commercial genetic testing company (Customized target capture sequencing, http://www.mygenostics.com/ServiceTechnology.aspx?nid=263&pid=268). The result showed compound heterozygous variants in the melanocortin 2 receptor (MC2R) gene, but the result of the CYP21A2 gene MLPA analysis was negative for hot-spot mutations and copy number variants (Supplementary Figure 1).
Sanger sequencing results with conservation status of amino acid residues (A), and protein modulation (B,C).
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F2
Confirmation with Sanger sequencing, conservation status of amino acid residue that have been affected, protein modeling results, and in-silico pathogenicity prediction results for both MC2R variants are provided in Figure 2 and Table 2.