{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T03:00:17Z","timestamp":1789614017351,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2007,10,12]],"date-time":"2007-10-12T00:00:00Z","timestamp":1192147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The g.ORF15\u2009+\u2009652\u2013653delAG mutation in the <jats:italic>RPGR<\/jats:italic> gene is the most frequent mutation in X\u2010linked retinitis pigmentosa (XLRP). The objective of this study was to investigate the possibility of mosaicism in an XLRP family. Eight subjects in the RP family were recruited. Blood samples were collected for DNA extraction. Haplotype analysis and mutational screening on the <jats:italic>RPGR<\/jats:italic> gene were performed. Additionally, samples of hair follicles and buccal cells from the mother of the proband were acquired for DNA extraction and molecular analysis. Phenotype was characterized with routine ophthalmic examination, Goldmann perimetry, electroretinography, and color fundus photography. A g.ORF15\u2009+\u2009652\u2013653delAG mutation was identified in second\u2010 and third\u2010generation patients\/carriers. A first\u2010generation female, who was considered to be an obligate carrier, demonstrated a normal phenotype as well as a normal genotype in lymphocytic DNA, indicating the gonadal mosaicism; however, a heterozygous AG\u2010deletion at nucleotide 652 and 653 was identified in the genomic DNA of hair follicles, hair shaft, and buccal cells, indicating that the mutation is somatic. In conclusion, we reported on a family in which an asymptomatic woman with somatic\u2013gonadal mosaicism for a <jats:italic>RPGR<\/jats:italic> gene mutation transmitted the mutation to an asymptomatic daughter and to a son with XLRP. Gonadal mosaicism may be responsible for a proportion of multiplex or simplex RP families, in which more than 50% of all cases of RP are found. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31984","type":"journal-article","created":{"date-parts":[[2007,10,12]],"date-time":"2007-10-12T22:46:48Z","timestamp":1192229208000},"page":"2544-2548","source":"Crossref","is-referenced-by-count":23,"title":["Somatic and gonadal mosaicism in X\u2010linked retinitis pigmentosa"],"prefix":"10.1002","volume":"143A","author":[{"given":"Zi\u2010Bing","family":"Jin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirokazu","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiro","family":"Yukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhisa","family":"Nao\u2010i","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,10,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30645"},{"key":"e_1_2_6_3_1","first-page":"9","article-title":"Die Beweiskraft derAhnlichkeit im Vater\u2010. schaftsnachweis. Theoretische Grundlagen","volume":"68","author":"Essen\u2010Moller E","year":"1938","journal-title":"Mitt Anth Ges Wien"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/515523"},{"key":"e_1_2_6_5_1","first-page":"535","article-title":"Novel deletion spanning RCC1\u2010like domain of RPGR in Japanese X\u2010linked retinitis pigmentosa family","volume":"11","author":"Jin ZB","year":"2005","journal-title":"Mol Vis"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/0-387-32442-9_5"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370120105"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20417"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30663"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050708"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31984","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31984","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:12:35Z","timestamp":1697595155000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31984"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,12]]},"references-count":9,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1002\/ajmg.a.31984"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31984","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,12]]}}}