PMC10003339_01
The skin pigmentation and the results of Sanger sequencing. (A, B) The skin pigmentation of the brother; (C, D) The skin pigmentation of the sister. (E) Sanger sequencing results of the variant.
fendo-14-1113234-g001.jpg
PMC10003339_02_fendo-14-1113234-g001.jpg
f1
She was also born with skin hyperpigmentation ( Figures 1C, D ) but never had hypoglycemia. Table 2 ). Sanger sequencing confirmed that the sister had the same homozygotic variants in c.712C>T/p.H238Y in MC2R ( Figure 1E ). The pedigree of the family is shown in  Figure 2 . The sister received oral hydrocortisone at a dose of 10 mg/m2 body surface area. To date, no readily visible side effects have been observed. In-silico tools predicted this variant would be pathogenic (SIFT: Damaging, Mutation taster: Disease causing, Polyphen-2: Probably damaging, CADD: Pathogenic and Revel: Damaging), and it was located at a highly conserved site (PP3), the protein model was constructed and polar contacts of wild-type and mutated amino acid residues were compared ( Supplement Figure 1 ).
PMC10003339_02
The skin pigmentation and the results of Sanger sequencing. (A, B) The skin pigmentation of the brother; (C, D) The skin pigmentation of the sister. (E) Sanger sequencing results of the variant.
fendo-14-1113234-g001.jpg
PMC10003339_02_fendo-14-1113234-g001.jpg
f1
She was also born with skin hyperpigmentation ( Figures 1C, D ) but never had hypoglycemia. Table 2 ). Sanger sequencing confirmed that the sister had the same homozygotic variants in c.712C>T/p.H238Y in MC2R ( Figure 1E ). The pedigree of the family is shown in  Figure 2 . The sister received oral hydrocortisone at a dose of 10 mg/m2 body surface area. To date, no readily visible side effects have been observed. In-silico tools predicted this variant would be pathogenic (SIFT: Damaging, Mutation taster: Disease causing, Polyphen-2: Probably damaging, CADD: Pathogenic and Revel: Damaging), and it was located at a highly conserved site (PP3), the protein model was constructed and polar contacts of wild-type and mutated amino acid residues were compared ( Supplement Figure 1 ).
The pedigree of the family. Filled symbol: patient, unfilled symbol: unaffected parents, black arrow: the proband, plus: normal allele, M: mutant allele.
fendo-14-1113234-g002.jpg
PMC10003339_02_fendo-14-1113234-g002.jpg
f2
Table 2 ). Sanger sequencing confirmed that the sister had the same homozygotic variants in c.712C>T/p.H238Y in MC2R ( Figure 1E ). The pedigree of the family is shown in  Figure 2 . The sister received oral hydrocortisone at a dose of 10 mg/m2 body surface area. To date, no readily visible side effects have been observed.