Gene mutation detection in an X-linked recessive retinitis pigmentosa family
Objective To study the clinical phenotypes and pathogenic variants in a Dong ethnic family with X-linked recessive retinitis pigmentosa(RP).Methods A Dong RP family in Huaihua,Hunan province,was selected for investigation and research.Professional eye examinations were performed on the family.DNA was extracted,and analyze proband(Ⅲ1)and patient(111)of the family using whole exome sequencing to identify pathogenic genes.The patient and their relatives were validated by Sanger sequencing.Results The genetic manner of this family was X-linked recessive inheritance.The proband,male,13-year-old,had poor vision since childhood,with a right eye naked visual acuity of 0.4 and a left eye naked visual acu-ity of 0.5.His dilated pupils showed a clear lens,clear and pale optic papillary borders,and extensive retinal pigmentation.The clinical phenotype of patient Ⅱ1 was similar to that of the proband.Genetic testing showed that the patient had a pure deletion mutation g.ORF15:653-654delAG(p.Glu802fs)in the RPGR gene,and a review of the data revealed that this muta-tion has not been reported in the Chinese Dong population.This mutation leads to severe clinical phenotypes in male patients,while female carriers generally exhibit varying degrees of degenerative myopia.Conclusion The pathogenic mutation in this family is the deletion mutation of g.ORF15:653-654delAG(p.Glu802fs),which has been reported for the first time in the Dong family of China,lays the foundation for genetic counseling and prenatal diagnosis in this family,and facilitates in-depth re-search of molecular pathology and gene therapy for XLRP.
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