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

<div>Genetic and phenotypic characterization of Family PK-DD-RP-01. (a) Pedigree and genotype showing the c.3719 G&gt;A (p. Arg1240Gln) variant in MYO7A. (b) Sanger sequencing of the c.3719 G&gt;A (p. Arg1240Gln) 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 R1240 residue in different species.</div>

Neural Plasticity

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Figure 2: Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families