{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:39Z","timestamp":1761717999129},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,9,4]],"date-time":"2006-09-04T00:00:00Z","timestamp":1157328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:p>Rett syndrome is a severe neurodevelopmental disorder that is caused by mutations in the X\u2010linked gene, methyl\u2010CpG binding protein 2 (<jats:italic>MECP2<\/jats:italic>). The majority of cases are sporadic, but rarely germline mosaicism can lead to familial cases. Here, we report the first case where germline mosaicism for a <jats:italic>MECP2<\/jats:italic> mutation has been shown in a man. He has two affected daughters who are half sisters, and both have the c.808delC mutation. We show that this mutation is present at a low level in DNA extracted from the patient\u2019s semen. This case has implications for genetic counseling, and pre\u2010natal testing should be offered for the partners of men who have a daughter with Rett syndrome.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00691.x","type":"journal-article","created":{"date-parts":[[2006,9,4]],"date-time":"2006-09-04T14:42:07Z","timestamp":1157380927000},"page":"336-338","source":"Crossref","is-referenced-by-count":22,"title":["Germline mosaicism for a <i>MECP2<\/i> mutation in a man with two Rett daughters"],"prefix":"10.1111","volume":"70","author":[{"given":"JC","family":"Evans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HL","family":"Archer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SD","family":"Whatley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,9,4]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/320109"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200618"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.7.435"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/515525"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9069"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00397.x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2006.00691.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2006.00691.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T23:25:45Z","timestamp":1696893945000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2006.00691.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,4]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1111\/j.1399-0004.2006.00691.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2006.00691.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,4]]}}}