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-DB-OKA-01. (a) Pedigree and genotypes showing the 482+1986-1988del variant in HGF (marked as -) and the c.706G&gt;A (p. Glu236Lys) variant in POU3F4 (marked as X-). (b) Sanger sequencing of the 482+1986-1988del and c.706G&gt;A (p. Glu236Lys) variants. (c). Pure tone audiometry showing the bilateral profound hearing loss in affected family members IV-24 and IV-6. (d) Position of the 3 bp deletion in human HGF and the 10 bp deletion in mouse Hgf that both lead to profound hearing loss. (e) Multiple sequence alignment showing the conservation of the E236 residue in different species.</div>

Neural Plasticity

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Figure 3: Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families