{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:12:47Z","timestamp":1762542767088,"version":"3.37.3"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T00:00:00Z","timestamp":1510617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81470669"],"award-info":[{"award-number":["81470669"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7152116"],"award-info":[{"award-number":["7152116"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000262","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","award":["CD\u2010CL\u20100214\u20100631\u2010PUMCH"],"award-info":[{"award-number":["CD\u2010CL\u20100214\u20100631\u2010PUMCH"]}],"id":[{"id":"10.13039\/501100000262","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4\u2010year follow\u2010up and molecular findings in a 28\u2010year\u2010old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X\u2010linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]\/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (<jats:italic>RPGR<\/jats:italic>) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X\u2010linked RP in a patient with Turner syndrome associated with mosaicism, and an <jats:italic>RPGR<\/jats:italic> heterozygous mutation. We hypothesize that X\u2010linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated <jats:italic>RPGR<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38501","type":"journal-article","created":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T12:37:09Z","timestamp":1510663029000},"page":"214-218","source":"Crossref","is-referenced-by-count":8,"title":["A heterozygous mutation in <i>RPGR<\/i> associated with X\u2010linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X\/46,XX)"],"prefix":"10.1002","volume":"176","author":[{"given":"Qi","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengxia","family":"Yao","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Genetics Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Wang","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Chen","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6659-0926","authenticated-orcid":false,"given":"Ruifang","family":"Sui","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,14]]},"reference":[{"issue":"10","key":"e_1_2_7_2_1","doi-asserted-by":"crossref","first-page":"4759","DOI":"10.1167\/iovs.07-0453","article-title":"Inner retinal abnormalities in X\u2010linked retinitis pigmentosa with RPGR mutations","volume":"48","author":"Aleman T. 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