{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:34:07Z","timestamp":1787726047241,"version":"build-2784847793"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,9,7]],"date-time":"2020-09-07T00:00:00Z","timestamp":1599436800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,9,7]],"date-time":"2020-09-07T00:00:00Z","timestamp":1599436800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["11571309"],"award-info":[{"award-number":["11571309"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the key Research and Development Program of Zhejiang Province","award":["2020C03121"],"award-info":[{"award-number":["2020C03121"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia, chest deformities, and anemia. The minimum length missed so far is 1.4\u2009Mb. However, there were no cases reported till date on microdeletions at position q25.2 on chromosome 15 with premature ovarian failure (POF).<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>We herein reported a POF case characterized by short stature with only 0.447\u2009Mb deletion on chromosome 15q25.2. The clinical and molecular characteristics in our patient showed the slightest clinical manifestations, with no clinical signs of neurodevelopmental delay, inguinal hernia, chest deformities, and anemia when compared to the previously reported cases. The microdeletions in our case included only 7 genes (HOMER2, FAM103A1, C15orf40, BTBD1, TM6SF1, HDGFRP3 and BNC1), and excluded the CPEB1 gene. Among these, the BNC1 gene is the only one that is known to be involved in reproduction. We hypothesized that the deletion of BNC1 gene in this patient led to haploinsufficiency, and consequently to POF.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The study of this case increased the knowledge on the molecular and phenotypic consequences of interstitial 15q25.2 deletion, emphasizing that BNC1 gene deletion in this region might contribute to POF.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12920-020-00787-w","type":"journal-article","created":{"date-parts":[[2020,9,7]],"date-time":"2020-09-07T13:02:47Z","timestamp":1599483767000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese\u00a0girl: a case report and review of literature"],"prefix":"10.1186","volume":"13","author":[{"given":"Zhen","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4273-1341","authenticated-orcid":false,"given":"Chunlin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,9,7]]},"reference":[{"key":"787_CR1","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.mce.2015.05.005","volume":"411","author":"P Laissue","year":"2015","unstructured":"Laissue P. Aetiological coding sequence variants in non-syndromic premature ovarian failure: from genetic linkage analysis to next generation sequencing. Mol Cell Endocrinol. 2015;411:243\u201357.","journal-title":"Mol Cell Endocrinol"},{"issue":"1","key":"787_CR2","first-page":"1","volume":"8","author":"F Pouresmaeili","year":"2014","unstructured":"Pouresmaeili F, Fazeli Z. Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes. Int J Fertil Steril. 2014;8(1):1\u201312.","journal-title":"Int J Fertil Steril"},{"issue":"5","key":"787_CR3","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.1086\/522591","volume":"81","author":"HC Mefford","year":"2007","unstructured":"Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. 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Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. Am J Med Genet A. 2013;161A(1):218\u201324.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"787_CR8","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1002\/ajmg.a.36203","volume":"164A","author":"T Burgess","year":"2014","unstructured":"Burgess T, Brown NJ, Stark Z, Bruno DL, Oertel R, Chong B, Calabro V, Kornberg A, Sanderson C, Kelly J, et al. Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. Am J Med Genet A. 2014;164A(1):77\u201386.","journal-title":"Am J Med Genet A"},{"issue":"5","key":"787_CR9","doi-asserted-by":"publisher","first-page":"2099","DOI":"10.1210\/jc.2016-1291","volume":"101","author":"C Hyon","year":"2016","unstructured":"Hyon C, Mansour-Hendili L, Chantot-Bastaraud S, Donadille B, Kerlan V, Dode C, Jonard S, Delemer B, Gompel A, Reznik Y, et al. 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The written consent to participate in the genetic testing was obtained from both the patient (the parents signed the form on behalf of their child) and her parents. We confirm that we have read the Journal\u2019s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s parents for publication of this Case Report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"126"}}