{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T07:40:10Z","timestamp":1751874010336,"version":"3.41.0"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"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. Genet."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>At present, there are few reports on 9q21.13 microdeletion syndrome, which is characterized by intellectual disability, epilepsy, autistic behaviour, and recognizable facial features, etc. The aim of this study is to enrich the phenotypic features of 9q21.13 microdeletion syndrome and expand the possible segments of 9q21.13 microdeletion syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four individuals from a 3-generation Chinese family with epilepsy, intellectual disability, and speech disorders were recruited in this study. Whole exome sequencing (WES) and chromosome microarray analysis (CMA) techniques were used for genetic testing. The pathogenicity of CNVs was interpreted following the American College of Medical Genetics (ACMG) standards and guidelines.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 9q21.13 microdeletion with a fragment size of approximately 2.35\u00a0Mb was identified in the proband, the proband\u2019s mother and grandmother and even the fetus. And this region encompasses 6 protein coding genes, namely, <jats:italic>ALDH1A1<\/jats:italic>, <jats:italic>ANXA1<\/jats:italic>, <jats:italic>GDA<\/jats:italic>, <jats:italic>RORB<\/jats:italic>, <jats:italic>TMC1<\/jats:italic>, and <jats:italic>ZFAND5<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this article, we report a girl with epilepsy, intellectual disability, speech disorders, delayed motor development, and autism. We identified a novel 9q21.13 microdeletion with a fragment size of approximately 2.35\u00a0Mb in 4 individuals from a 3-generation Chinese family by WES and CMA techniques. Within the region, the <jats:italic>RORB<\/jats:italic> gene is a strong candidate gene for complex neurodevelopmental disorders. Herein, we speculate that <jats:italic>RORB<\/jats:italic> makes a significant contribution to the clinical phenotypes caused by 9q21.13 microdeletion.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2025.1616005","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T07:22:27Z","timestamp":1751872947000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review"],"prefix":"10.3389","volume":"16","author":[{"given":"Liqing","family":"Jiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaqi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aizhong","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaotong","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanjun","family":"Tian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,7,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"3867","DOI":"10.1093\/emboj\/17.14.3867","article-title":"Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice","volume":"17","author":"Andr\u00e9","year":"1998","journal-title":"EMBO J."},{"key":"B2","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.ejmg.2013.12.001","article-title":"RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability","volume":"57","author":"Baglietto","year":"2014","journal-title":"Eur. 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