Ayşe Burcu Doğan Arı, Ayberk Türkyılmaz, Nagihan Çiftçi Pınar, Uğur Turhan, Avni Merter Keçeli, Umut Selda Bayrakçı, Esra Kılıç
{"title":"2例新患者的crb2相关综合征：三个新变体","authors":"Ayşe Burcu Doğan Arı, Ayberk Türkyılmaz, Nagihan Çiftçi Pınar, Uğur Turhan, Avni Merter Keçeli, Umut Selda Bayrakçı, Esra Kılıç","doi":"10.1159/000547159","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>The Crumbs homolog-2 (<i>CRB2</i>)-related syndrome is an extremely rare genetic disorder characterized by congenital hydrocephalus, steroid-resistant nephrotic syndrome, and cardiac anomalies. It is caused by biallelic variants in the <i>CRB2</i> gene.</p><p><strong>Case presentation: </strong>Herein, 2 new patients are presented including congenital hydrocephalus, nephrotic syndrome, scimitar syndrome, and severe cardiac anomalies. <i>CRB2</i>-related syndrome was considered with the present clinical findings and whole exome sequencing revealed three novel variants in <i>CRB2</i> gene. Microcephaly, ventricular hypertrophy, anomalous pulmonary venous return, pulmonary sequestration, and thymus hypoplasia were presented only in the current patients. Variants in exon 2 (c.335G>A, p.Cys112Tyr) and intron 2 (c.419-2A>G) were reported only in the presented report. In addition, the first likely pathogenic splice-site variant was reported in this report.</p><p><strong>Conclusion: </strong>Accurate diagnosis is crucial for increasing clinical awareness and offering genetic counseling to affected families.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.9000,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303573/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>CRB2</i>-Related Syndrome in 2 New Patients: Three Novel Variants.\",\"authors\":\"Ayşe Burcu Doğan Arı, Ayberk Türkyılmaz, Nagihan Çiftçi Pınar, Uğur Turhan, Avni Merter Keçeli, Umut Selda Bayrakçı, Esra Kılıç\",\"doi\":\"10.1159/000547159\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>The Crumbs homolog-2 (<i>CRB2</i>)-related syndrome is an extremely rare genetic disorder characterized by congenital hydrocephalus, steroid-resistant nephrotic syndrome, and cardiac anomalies. It is caused by biallelic variants in the <i>CRB2</i> gene.</p><p><strong>Case presentation: </strong>Herein, 2 new patients are presented including congenital hydrocephalus, nephrotic syndrome, scimitar syndrome, and severe cardiac anomalies. <i>CRB2</i>-related syndrome was considered with the present clinical findings and whole exome sequencing revealed three novel variants in <i>CRB2</i> gene. Microcephaly, ventricular hypertrophy, anomalous pulmonary venous return, pulmonary sequestration, and thymus hypoplasia were presented only in the current patients. Variants in exon 2 (c.335G>A, p.Cys112Tyr) and intron 2 (c.419-2A>G) were reported only in the presented report. In addition, the first likely pathogenic splice-site variant was reported in this report.</p><p><strong>Conclusion: </strong>Accurate diagnosis is crucial for increasing clinical awareness and offering genetic counseling to affected families.</p>\",\"PeriodicalId\":48566,\"journal\":{\"name\":\"Molecular Syndromology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-07-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303573/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Syndromology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000547159\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000547159","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
CRB2-Related Syndrome in 2 New Patients: Three Novel Variants.
Introduction: The Crumbs homolog-2 (CRB2)-related syndrome is an extremely rare genetic disorder characterized by congenital hydrocephalus, steroid-resistant nephrotic syndrome, and cardiac anomalies. It is caused by biallelic variants in the CRB2 gene.
Case presentation: Herein, 2 new patients are presented including congenital hydrocephalus, nephrotic syndrome, scimitar syndrome, and severe cardiac anomalies. CRB2-related syndrome was considered with the present clinical findings and whole exome sequencing revealed three novel variants in CRB2 gene. Microcephaly, ventricular hypertrophy, anomalous pulmonary venous return, pulmonary sequestration, and thymus hypoplasia were presented only in the current patients. Variants in exon 2 (c.335G>A, p.Cys112Tyr) and intron 2 (c.419-2A>G) were reported only in the presented report. In addition, the first likely pathogenic splice-site variant was reported in this report.
Conclusion: Accurate diagnosis is crucial for increasing clinical awareness and offering genetic counseling to affected families.
期刊介绍：
''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
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