Genetic and prenatal diagnosis of a retinitis pigmentosa pedigreeCSCD

Objective To explore the genetic etiology of a pedigree affected with hereditary retinitis pigmentosa. Methods High-throughput DNA sequencing was used to analyze the sequences of 173 genes associated with hereditary eye diseases in the proband. Suspected mutation was verified with PCR amplification and Sanger sequencing. Results The proband was found to have carried a c. 570-571 ins GAAGATGCTGT insertional mutation in the RP2 gene located on the X chromosome. All female carriers of the pedigree were heterozygous, while all affected males were hemizygous for the same mutation. Conclusion The inheritance pattern of this retinitis pigmentosa pedigree was X-linked recessive. The c. 570-571 ins GAAGATGCTGT insertional mutation of the RP2 gene probably underlies the disease. © 2018 West China University of Medical Sciences. All rights reserved.