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By 2011, only seven pedigrees (16 patients) with eight causative variants in\n                    <jats:italic>LINS1<\/jats:italic>\n                    gene have been reported. These cases mainly presented with infancy\u2010\/child\u2010onset neurodevelopmental disorders, facial dysmorphia, and other clinical features, and a wide spectrum of clinically distinct phenotypes were also manifested. In our study, two brothers in a family were admitted and diagnosed with child\u2010onset movement disorders, slight intellectual disability, psychological symptoms, eye problems, urinary and bowel dysfunction, mitral value prolapse, and Q\u2010T prolongation. By exome sequencing, we identified a nonsense homozygous pathogenic variant (\n                    <jats:italic>LINS1<\/jats:italic>\n                    : c.274C\u2009&gt;\u2009T (p.Q92X)), which had been reported in a case diagnosed with intellectual disability and psychiatric disorders (such as schizophrenia and anxiety). Compared with this case, the clinical features of our cases were distinct. In particular, our cases displayed unusual features of heart and blood system. Furthermore, the genotype\u2013phenotype relationship analysis suggested that distinct phenotypes presented in cases carrying variants in different domains of the\n                    <jats:italic>LINS1<\/jats:italic>\n                    gene. In conclusions, our findings suggest the high clinical variations in the\n                    <jats:italic>LINS1<\/jats:italic>\n                    variants\u2010related disorders. Moreover, the Q92X might be a recurrent variant in Hans of Southern China.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.32085","type":"journal-article","created":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T09:27:37Z","timestamp":1712050057000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Domain\u2010specific phenotypes in\n                    <i>LINS1<\/i>\n                    \u2010related disorder\u2014A Chinese family with the\n                    <scp>Q92X<\/scp>\n                    variant and literature review"],"prefix":"10.1002","volume":"196","author":[{"given":"Xu\u2010Ying","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurobiology Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases  Beijing 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University, National Clinical Research Center for Geriatric Diseases  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-87"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.021428"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23609"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bj.2021.08.003"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2653"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz829"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.11.1364"},{"issue":"2","key":"e_1_2_11_9_1","first-page":"155","article-title":"Molecular cloning and characterization of human WINS1 and mouse Wins2, homologous to Drosophila segment polarity gene lines 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