{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T10:39:49Z","timestamp":1791110389925,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T00:00:00Z","timestamp":1396915200000},"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":[[2014,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations of the <jats:italic>CDKL5<\/jats:italic> gene cause early epileptic encephalopathy. Patients manifest refractory epilepsy, beginning before the age of 3 months, which is associated with severe psychomotor delay and features that overlap with Rett syndrome. We report here a patient with mosaicism for <jats:italic>CDKL5<\/jats:italic> exonic deletion, with the presence of two mutant alleles. The affected 4\u2010year\u2010old girl presented with infantile spasms, beginning at the age of 9 months, but subsequent progression of the disease was consistent with the classical <jats:italic>CDKL5<\/jats:italic>\u2010related phenotype. A deletion of exons 17 and 18 was suspected on the basis of Multiplex Ligation Probe Amplification analysis, but unexpected results for cDNA analysis, which showed the presence of an abnormal transcript with the deletion of exon 18 only, led us to suspect that two distinct events might have occurred. We used custom array\u2010CGH to determine the size and breakpoints of these deletions. Exon 18 was deleted from one of the abnormal alleles, and exon 17 was deleted from the other. A Fork Stalling and Template Switching (FoSTeS) mechanism was proposed to explain the two events, given the presence of regions of microhomology at the breakpoints. We propose here an original involvement of the FoSTeS mechanism to explain the co\u2010occurrence of these two events in the <jats:italic>CDKL5<\/jats:italic> gene in a single patient. This patient highlights the difficulties involved in the detection of such abnormalities, particularly when they occur in a mosaic state and involve two distinct mutational events in a single gene. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36547","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T21:46:57Z","timestamp":1396993617000},"page":"2025-2028","source":"Crossref","is-referenced-by-count":7,"title":["Complex mosaic <i>CDKL5<\/i> deletion with two distinct mutant alleles in a 4\u2010year\u2010old girl"],"prefix":"10.1002","volume":"164","author":[{"given":"Nadia","family":"Boutry\u2010Kryza","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics Lyon University Hospital Lyon France"},{"name":"Claude Bernard Lyon I University Lyon France"},{"name":"CRNL CNRS UMR 5292, INSERM U1028 Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Ville","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Labalme","sequence":"additional","affiliation":[{"name":"Department of Genetics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Calender","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics Lyon University Hospital Lyon France"},{"name":"Claude Bernard Lyon I University Lyon France"},{"name":"INSERM U1052 Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Michel","family":"Dupont","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory Universit\u00e9 Paris Descartes, Facult\u00e9 de M\u00e9decine \u2010 APHP, H\u00f4pital Cochin Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[{"name":"Department of Genetics H\u00f4pital Nord, Saint\u2010Etienne University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[{"name":"Claude Bernard Lyon I University Lyon France"},{"name":"CRNL CNRS UMR 5292, INSERM U1028 Lyon France"},{"name":"Department of Genetics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"des Portes","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[{"name":"Claude Bernard Lyon I University Lyon France"},{"name":"CRNL CNRS UMR 5292, INSERM U1028 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