Supplementary Figure 1-Deficient mismatch repair is detected in large to giant congenital melanocytic nevus: gaining insight into etiology and identifying potential treatments.

Supplementary Figure 1. WES disvovered germline mutation of MMR gene in LGCMN patients. Germline mutations of core MMR genes are colored in red. Patient 1 has a classic-type LCMN with only 3 satellite lesions. She harbored no germline mutation of MMR gene. Patient 2 was not available for WES due to the absence of normal samples. Patient 3 has a classic-type GCMN with a brest/belly pattern. Satellite lesions (<20) with a similar phenotype were discovered throughout the body. Germline mutation of the core MMR gene was not detected. Patient 4 is shown in Figure 1. Patient 5 has a classic-type GCMN with a bathing trunk pattern. Satellite lesions (20-50) with diverse phenotypes (vary in color, size, hairiness, CMN Subgroup) were discovered throughout the body. Germline mutation of MSH6 was probed, and the mutation was predicted to be deleterious. Signature of dMMR was detected in main lesions and satellite lesions of all four patients. The photos of patient 5 were taken after surgical treatments of tissue expansion. Written consents were obtained for clinical photo publication. dMMR, deficient mismatch repair; P, patient; M, main lesion; S, satellite lesion.