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Fig. 2 Pedigree and gene analysis of PLEC in family #2. A: Pedigree of the affected family members. B: Trio whole-exome sequencing analysis was performed on family #2 (father II-4, mother II-5 and daughter III-1). Sanger sequencing confirmed the presence of biallelic PLEC variants in II-4 and III-1 while II-5 was heterozygous carrier of a single mutation. C: Schematic representation of the plectin protein with the newly identified mutations. D: Amino acid alignment of the regions containing the plectin mutations. Capital letters at the top denote conserved amino acids among all the species.
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Reprinted from Hearing Research, 436, Zhang, T., Xu, Z., Zheng, D., Wang, X., He, J., Zhang, L., Zallocchi, M., Novel biallelic variants in the PLEC gene are associated with severe hearing loss, 108831108831, Copyright (2023) with permission from Elsevier. Full text @ Hear. Res.