Figure 2 | Genetics in Medicine

Figure 2

From: Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

Figure 2

Pedigrees and sequence chromatograms of the autosomal recessive families R1 through R5. *Those who were available for sequencing. (R1) Compound heterozygous MYO15A c.1137delC (p.Tyr380Metfs*65) (left) and c.7124_7127delACAG (p.Asp2375Valfs*29) (right) mutations. The deleted sequence under segregation analysis is boxed. (R2) Homozygous MYO7A c.3935T>C (p.Leu1312Pro) mutation in a consanguineous family. (R3) Compound heterozygous USH2A c.1841-2A>G (left) and c.2440C>T (p.Gln814*) (right) mutations. (R4) Heterozygous USH2A c.2276G>T (p.Cys759Phe). (R5) Homozygous GJB2 c.35delG (p.Gly12Valfs*2).

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