{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T17:43:15Z","timestamp":1767202995586,"version":"build-2238731810"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,27]],"date-time":"2021-10-27T00:00:00Z","timestamp":1635292800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    Rett syndrome is an X-linked dominant, postnatal neurological disorder. Approximately 80\u201390% of classic Rett syndrome patients harbor mutations in the coding region of\n                    <jats:italic>MECP2<\/jats:italic>\n                    . Somatic or germline\n                    <jats:italic>MECP2<\/jats:italic>\n                    mosaicism is not rare, and paternal germline\n                    <jats:italic>MECP2<\/jats:italic>\n                    mosaicism occurs in especially high proportions. Here, we report the case of a Chinese girl with Rett syndrome in whom a heterozygous deletion was found in exon 4 of\n                    <jats:italic>MECP2<\/jats:italic>\n                    using multiplex ligation-dependent probe amplification. To obtain an accurate region of deletion, we narrowed down the deletion region using real-time quantitative PCR, and subsequent long-range PCR was performed to detect the deletion breakpoints. Surprisingly, three DNA bands from long-range PCR products were observed after gel electrophoresis. To exclude somatic mosaicism, we performed T-A cloning and DNA sequencing, the middle DNA band was proved to be a heteroduplex of the PCR product\n                    <jats:italic>in vitro<\/jats:italic>\n                    . Meanwhile, a prenatal diagnosis was performed for the pregnant mother of the patient. Our study showed that the patient was heterozygous for the deletion of 713-base pairs in exon 4 of\n                    <jats:italic>MECP2<\/jats:italic>\n                    (\n                    <jats:italic>MECP2<\/jats:italic>\n                    : c.441_1153del713), resulting in a frameshift and premature termination of the 487 amino acid protein at the 154th codon. In summary, we reported a novel heterozygous deletion in the\n                    <jats:italic>MECP2<\/jats:italic>\n                    gene with heteroduplexes of the PCR product\n                    <jats:italic>in vitro<\/jats:italic>\n                    , which can help in the genetic counseling and prenatal diagnosis of disorders of\n                    <jats:italic>MECP2<\/jats:italic>\n                    defects.\n                  <\/jats:p>","DOI":"10.3389\/fped.2021.748641","type":"journal-article","created":{"date-parts":[[2021,10,27]],"date-time":"2021-10-27T01:50:09Z","timestamp":1635299409000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product"],"prefix":"10.3389","volume":"9","author":[{"given":"Honghong","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yixi","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxia","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiali","family":"Hong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miaomiao","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,10,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann 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Rep."},{"key":"B12","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat Genet."},{"key":"B13","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1136\/jmg.38.7.435","article-title":"Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease","volume":"38","author":"Villard","year":"2001","journal-title":"J Med Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"1330","DOI":"10.1038\/s41436-018-0348-2","article-title":"Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort","volume":"21","author":"Zhang","year":"2019","journal-title":"Genet 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