Molecular Genetic Of A Chinese Pedigree With Retinitis Pigmentosa

Retinitis pigmentosa(retinitis pigmentosa,RP)is a progressive blindness disease associated with the structural or functional abnormalities of cones and rods(photoreceptors)or pigment epithelium.The prevalence rate is about 1/4000 aboard,and the prevalence rate is about 1/3467 in China.The typical clinical features of retinitis pigmentosa include night blindness,vision field narrowing and decreased visual acuity as the disease progresses gradually,optic atrophy,bone cell-like retinal pigmentation.RP is a kind of disease with highly genetic heterogeneity.According to the mode of inheritance,RP can be divided into autosomal dominant inheritance RP(adRP),autosomal recessive inheritance RP(arRP),X-linkage inheritance RP,double gene genetic inheritance and mitochondrial DNA genetic inheritance.AdRP patients in the proportion of 15%-20% of RP.It has identified 14 genes associated with adRP,including CA4,CRX,GUCA1 B,IMPDH1,NRL,PRPF8,PRPF3,PRPF31,RHO,RDS,ROM1,RP9,RP1,SEMA4 A.NRL(neural retinal leucine zippe)gene encoding basic motif-leucine zipper protein(bZIP).Which regulate the expression of the rhodopsin(RHO)of photoreceptor.Objective: To analyze the clinical characteristics and genetic analysis of a family with retinitis pigmentosa.Methods: Fifteen family members were included in the study.Complete ophthalmologic examinations were underwent to identify the absence of RP.Targeted-capture sequencing by custom capture panel which including 59 RP disease related genes was performed on the proband diagnosed as RP.Identified variations were verified in all the rest family members by PCR and Sanger sequencing.Bioinformatics analysis of mutations were doing in the application of UCSC online and polyhpen-2.Results: In this family for three generations,all patients diagonosed retinitis pigmentosa were clinically characterized by different degree of night blindness,surrounding a narrow field of vision,vision loss.The family genetics research found that the adRP family members of 5 patients carried a mutation missense mutation of c.152C>T(p.Pro51Leu)in chr14:24551906 by targeted-capture sequencing based eye disease chip.This variant was co-segregated with the phenotype of this family.Conclusions: In this study,complete ophthalmologic examinations were underwent to all family member.The family members in this study,a total of 3 generations,each generation of all patients with retinitis pigmentosa.All patients diagonosed retinitis pigmentosa were clinically characterized by different degree of night blindness,surrounding a narrow field of vision,vision loss.A missense mutation(c.152C>T,p.Pro51Leu)in chr14:24551906 for autosomal dominant RP family was identified.