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Pedigrees and genotypes of family SH.

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posted on 10.08.2020, 17:34 by Luping Zhang, Yu Gao, Ru Zhang, Feifei Sun, Cheng Cheng, Fuping Qian, Xuchu Duan, Guanyun Wei, Cheng Sun, Xiuhong Pang, Penghui Chen, Renjie Chai, Tao Yang, Hao Wu, Dong Liu

(a) Pedigrees of family SH. The individuals selected for linkage analysis and whole-exome sequencing was marked with asterisks and triangles, respectively. (b) Representative audiograms of family SH. (c) Logarithm of the odds (LOD) scores of genome-wide linkage analysis for chromosome 18. A maximum LOD score of 4.93 was obtained for marker rs928980. (d) Chromatograms of wild type (WT) and mutant (Mut) sequence for c.547C>G (p.L183V). (e) Diagram showing domains of human THOC1 protein and the location of the p.L183V mutation. (f) Multiple sequence alignment of THOC1 showing conservation of the leucine 183 residue.