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

Figure 1

Genetic and phenotypic characterization of Family PK-DD-KA-01. (a) Pedigree and genotype showing the c.536del (p. Leu180Serfs20) variant in TECTA. (b) Sanger sequencing of the c.536del (p. Leu180Serfs20) variant in affected and unaffected family members. (c) Pure tone audiometry showing the bilateral profound hearing loss in affected family member IV-4. (d) Multiple sequence alignment showing the conservation of the L180 residue in different species.

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