Hui-Hui Sun1, Jing-Cong Zhao1, Su-Ling Yang1, Jin-Dou Shi2, Yun-Shuo Wei1, Jian-Cang Wang1, Feng Gu3, Lu Chen1. 1. Children's Hospital of Hebei Province, Shijiazhuang 050000, Hebei Province, China. 2. Hebei General Hospital, Shijiazhuang 050000, Hebei Province, China. 3. School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, China.
Abstract
AIM: To identify potential mutations and elucidate the clinical findings of male patients and female carriers of X-linked retinitis pigmentosa (XLRP) in a Chinese family. METHODS: A four generation pedigree was collected that consisted of 20 individuals. Genomic DNA was extracted from peripheral blood, and then the target fragments were amplified by PCR and sequenced directly. In addition, all affected patients and female carriers underwent comprehensively ophthalmic evaluation. RESULTS: A novel mutation c.2865G>A p.W955X in RPGR gene was identified of this family, including four affected individuals and eight carriers. All male patients, aging from 7 to 31y, tended to have more various, even potentially deleterious clinical features of RP. At the same time, individuals with heterozygous mutations (carriers) manifested a wide spectrum of clinical features. Herein, only two male patients and three female carriers manifested pathological myopia (PM). Among the female carriers, half of subjects who harbor poor visual acuity suffered esotropia or exotropia. Additionally, 16.7% and 66.7% of carriers had abnormal electroretinogram (ERG) and fundus, respectively. CONCLUSION: In this study, a novel mutation of the RPGR gene is identified, which broadens the spectrum of RPGR mutations, and elaborates the relationship between genotype and phenotype. International Journal of Ophthalmology Press.
AIM: To identify potential mutations and elucidate the clinical findings of male patients and female carriers of X-linked retinitis pigmentosa (XLRP) in a Chinese family. METHODS: A four generation pedigree was collected that consisted of 20 individuals. Genomic DNA was extracted from peripheral blood, and then the target fragments were amplified by PCR and sequenced directly. In addition, all affected patients and female carriers underwent comprehensively ophthalmic evaluation. RESULTS: A novel mutation c.2865G>A p.W955X in RPGR gene was identified of this family, including four affected individuals and eight carriers. All male patients, aging from 7 to 31y, tended to have more various, even potentially deleterious clinical features of RP. At the same time, individuals with heterozygous mutations (carriers) manifested a wide spectrum of clinical features. Herein, only two male patients and three female carriers manifested pathological myopia (PM). Among the female carriers, half of subjects who harbor poor visual acuity suffered esotropia or exotropia. Additionally, 16.7% and 66.7% of carriers had abnormal electroretinogram (ERG) and fundus, respectively. CONCLUSION: In this study, a novel mutation of the RPGR gene is identified, which broadens the spectrum of RPGR mutations, and elaborates the relationship between genotype and phenotype. International Journal of Ophthalmology Press.
Authors: Zhijian Wu; Suja Hiriyanna; Haohua Qian; Suddhasil Mookherjee; Maria M Campos; Chun Gao; Robert Fariss; Paul A Sieving; Tiansen Li; Peter Colosi; Anand Swaroop Journal: Hum Mol Genet Date: 2015-04-15 Impact factor: 6.150
Authors: Qihong Zhang; Joseph C Giacalone; Charles Searby; Edwin M Stone; Budd A Tucker; Val C Sheffield Journal: Proc Natl Acad Sci U S A Date: 2019-01-08 Impact factor: 11.205
Authors: Jennifer D Churchill; Sara J Bowne; Lori S Sullivan; Richard Alan Lewis; Dianna K Wheaton; David G Birch; Kari E Branham; John R Heckenlively; Stephen P Daiger Journal: Invest Ophthalmol Vis Sci Date: 2013-02-19 Impact factor: 4.799
Authors: Mays Talib; Mary J van Schooneveld; Caroline Van Cauwenbergh; Jan Wijnholds; Jacoline B Ten Brink; Ralph J Florijn; Nicoline E Schalij-Delfos; Gislin Dagnelie; Maria M van Genderen; Elfride De Baere; Magda A Meester-Smoor; Julie De Zaeytijd; Frans P M Cremers; L Ingeborgh van den Born; Alberta A Thiadens; Carel B Hoyng; Caroline C Klaver; Bart P Leroy; Arthur A Bergen; Camiel J F Boon Journal: Invest Ophthalmol Vis Sci Date: 2018-08-01 Impact factor: 4.799
Authors: Jasmina Cehajic-Kapetanovic; Kanmin Xue; Cristina Martinez-Fernandez de la Camara; Anika Nanda; Alexandra Davies; Laura J Wood; Anna Paola Salvetti; M Dominik Fischer; James W Aylward; Alun R Barnard; Jasleen K Jolly; Edmond Luo; Brandon J Lujan; Tuyen Ong; Aniz Girach; Graeme C M Black; Ninel Z Gregori; Janet L Davis; Potyra R Rosa; Andrew J Lotery; Byron L Lam; Paulo E Stanga; Robert E MacLaren Journal: Nat Med Date: 2020-02-24 Impact factor: 53.440