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. Author manuscript; available in PMC: 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Jul 29;43(12):1706–1731. doi: 10.1002/humu.24434

Figure 4.

Figure 4.

Prevalence of PLEC variants, types, and associated phenotypes. (A) Total number and percentage of nonsense, missense, frameshift, slice site, insertion, and deletion variants. (B) Total number and percentage of pathogenic variants by location in different protein domains. (C) The relative distribution of the type of PLEC variants by each plectinopathy subtype. Please note that EBS-Ogna is an autosomal dominant disorder and the presence of a missense variant causes the disease. All the other types of plectinopathies listed are autosomal recessive. This figure was generated in Biorender.