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. 2019 Apr 24;10:413. doi: 10.3389/fneur.2019.00413

Figure 4.

Figure 4

Sequencing results of GJB1 and its schematic representation of the proximal Cx32 promoter region. (A) The proband had a hemizygous c.-170T>G variant. (B) III-1, the mother of the proband, had a heterozygous c.-170T>G. (C,D) III-1, the father of the proband and IV-2, the brother of the proband, were both wild genotype. (E) II-2, a 93-year old woman and the grandma of the proband without any clinical manifestation, carried a heterozygous c.-170T>G. (F) III-8, an affected male with typical neuromuscular manifestations had hemizygous c.-170T>G. (G) Schematic representation of the proximal Cx32 promoter region which indicates the positions of SOX10 (S1 and S2) and EGR2 (E1, E2, and E3) binding sites. GJB1 has 2 tissue-specific promoters (P1 and P2) which are alternatively spliced. In neural tissue, GJB1 transcription is driven via the nerve-specific promoter 2 (P2) upstream of non-coding exon 1b. Up to now, four mutations in the P2 region have been reported (indicated with asterisk). The c.-170T>G variant identified in this pedigree (red) neighbors c.-171G>C which has been proved impairing SOX10-mediated transcription of GJB1. This figure was modified from Neurology 2017;88:1445–1453. with permission.