Simultaneous Identification of Both and Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is characterized by tremendous genetic and phenotypic heterogeneity. Here, we investigate the pathogeny of RP in a family to provide evidence for genetic and reproductive counseling for families. Although this pregnant woman of 8 weeks presented with RP, her first baby was born with RP, epilepsy, and cerebellar atrophy. The research identified a compound heterozygous mutation (c.998+3_998+6del/deletion) in the gene of the first born, explaining the cause of the proband's disease, which cannot explain the mother's. Then, a homozygous mutation c.343+1G > A in of the mother was found. RT-PCR is employed to find that there is a skipping of exon 10 in and a 15-nucleotide retention of intron5 in . The coexistence of two independent instances of RP caused by distinct genes in one pedigree is demonstrated. Based on the diagnosis, a prenatal diagnosis performed on the fetus found that the fetus's is affected by the same mutation as the proband. The research underscoring the complexity of RP and the need for the combination of extensive molecular genetic testing and clinical characterization in addition expands the spectrum of mutations. Finally, it is expected that the family members would be prevented from reproducing children with the similar disease.