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Figure 1 | BMC Medical Genetics

Figure 1

From: Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

Figure 1

Confirmation of novel pathogenic variants in MYO15A . Causative mutations were confirmed by capillary sequencing of DNA from the families of affected patients. (A) In family SR-903, compound heterozygous mutations, IVS11 + 1G > A and p.R2146Q, are carried by both affected siblings, SR-903 and SR-903B. The heterozygous IVS11 + 1G > A mutation is from the mother (SR-903 M), and the other heterozygous p.R2146Q mutation is from the father (SR-903 F). (B) SR-285 carries the heterozygous p.S2161F mutation in MYO15A, and this mutation was confirmed in the affected sibling SR-285S. All the pathogenic variants occur at a highly conserved position. The corresponding DNA sequences appear in red.

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BMC Medical Genetics

ISSN: 1471-2350

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