Suzena M. Singh, Rajesh K. Maurya, Amita Moirangthem
{"title":"原发性小头畸形兄妹的 WDR62 基因内同源缺失","authors":"Suzena M. Singh, Rajesh K. Maurya, Amita Moirangthem","doi":"10.1159/000540108","DOIUrl":null,"url":null,"abstract":"Introduction: Primary microcephaly is genetically heterogeneous. Despite the rapid evolution of scientific information and bioinformatic tools, etiology remains elusive in more than half of the affected population. A substantial fraction of these undiagnosed cases is anticipated to have large structural variations in one of the causative genes. This class of variations has been difficult to detect by exome sequencing. Case Presentation: We report a sibling pair with global developmental delay, microcephaly, and brain abnormalities who were recruited under the Indian Undiagnosed Disease Program (I-UDP) for further evaluation after an uninformative initial exome sequencing. Conclusion: Copy number analysis using whole genome sequencing data detected a large homozygous deletion of 9.78 kb encompassing exon 1 to exon 3 of WDR62 (OMIM*613583). These results were further validated by performing comparative quantification of the copy number of deleted exons in both siblings and parents.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Homozygous Intragenic Deletion in WDR62 in Siblings with Primary Microcephaly\",\"authors\":\"Suzena M. Singh, Rajesh K. Maurya, Amita Moirangthem\",\"doi\":\"10.1159/000540108\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Introduction: Primary microcephaly is genetically heterogeneous. Despite the rapid evolution of scientific information and bioinformatic tools, etiology remains elusive in more than half of the affected population. A substantial fraction of these undiagnosed cases is anticipated to have large structural variations in one of the causative genes. This class of variations has been difficult to detect by exome sequencing. Case Presentation: We report a sibling pair with global developmental delay, microcephaly, and brain abnormalities who were recruited under the Indian Undiagnosed Disease Program (I-UDP) for further evaluation after an uninformative initial exome sequencing. Conclusion: Copy number analysis using whole genome sequencing data detected a large homozygous deletion of 9.78 kb encompassing exon 1 to exon 3 of WDR62 (OMIM*613583). These results were further validated by performing comparative quantification of the copy number of deleted exons in both siblings and parents.\",\"PeriodicalId\":48566,\"journal\":{\"name\":\"Molecular Syndromology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-07-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Syndromology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000540108\",\"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/10.1159/000540108","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Homozygous Intragenic Deletion in WDR62 in Siblings with Primary Microcephaly
Introduction: Primary microcephaly is genetically heterogeneous. Despite the rapid evolution of scientific information and bioinformatic tools, etiology remains elusive in more than half of the affected population. A substantial fraction of these undiagnosed cases is anticipated to have large structural variations in one of the causative genes. This class of variations has been difficult to detect by exome sequencing. Case Presentation: We report a sibling pair with global developmental delay, microcephaly, and brain abnormalities who were recruited under the Indian Undiagnosed Disease Program (I-UDP) for further evaluation after an uninformative initial exome sequencing. Conclusion: Copy number analysis using whole genome sequencing data detected a large homozygous deletion of 9.78 kb encompassing exon 1 to exon 3 of WDR62 (OMIM*613583). These results were further validated by performing comparative quantification of the copy number of deleted exons in both siblings and parents.
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.