Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families

Figure 4

Domain structure and variant position of TECTA, MYO7A, and POU3F4 proteins. (a) α-Tectorin consists of entactin domain (ENT), zonadhesin (ZA) domain, and C-terminal zona pellucida (ZP) domain. Previously reported autosomal recessive variants in TECTA are presented, with the c.536del (p. Leu180Serfs20) variant highlighted by the red arrow. (b) Myosin VIIA consists of a motor domain, five IQ motif repeats, two large repeats of MyTH4 and FERM domains, and an SH3 domain. The c.3719 G>A (p. Arg1240Gln) variant is highlighted by the red arrow. (c) POU3F4 consists of a POU-specific domain (POUS) and a POU homeodomain (POUH). Previously reported POU3F4 variants are presented, with the c.706G>A (p. Glu236Lys) variant highlighted by the red arrow.

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