Confirmation of pathogenic variants inCDH23. (A) Causative mutations were confirmed by capillary sequencing of DNA from the families of affected patients. In family SR-106, compound heterozygous mutations, p.Pro240Leu and p.Glu1595Lys, were identified. One heterozygous p.Pro240Leu mutation was confirmed in the father. (B) In family SR-209, compound heterozygous mutations, p.Pro240Leu and p.Asn342Ser, were carried by an affected sibling and a heterozygous p.Pro240Leu mutation by the father. All pathogenic variants occurred at a highly conserved position. The corresponding DNA sequences appear in red.
Woo et al. BMC Medical Genetics 2014 15:46 doi:10.1186/1471-2350-15-46