Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Najum Uddin, Raja Hussain Ali, Khurram Liaqat, Wasim Ahmad
{"title":"MEGF8和GJA1并指序列变异。","authors":"Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Najum Uddin, Raja Hussain Ali, Khurram Liaqat, Wasim Ahmad","doi":"10.1159/000528651","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Syndactyly is a common congenital limb malformation. It occurs due to embryological failure of digit separation during limb development. Syndactyly often runs in families with an incidence of about one out of every 2,500-3,000 live births.</p><p><strong>Methods: </strong>Here, we have reported two families presenting features of severe forms of syndactyly. The disorder segregated in autosomal recessive in one and in autosomal dominant manner in the second family. Search for the causative variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B.</p><p><strong>Results: </strong>Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in <i>MEGF8</i> in family A and p.(Thr89Ile) in <i>GJA1</i> in family B.</p><p><strong>Conclusion: </strong>In conclusion, the novel findings, presented here, not only expand the mutation spectrum in the genes <i>MEGF8</i> and <i>GJA1</i>, but this will also facilitate screening other families carrying similar clinical features in the Pakistani population.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 3","pages":"201-207"},"PeriodicalIF":0.9000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267519/pdf/","citationCount":"0","resultStr":"{\"title\":\"Sequence Variants in <i>MEGF8</i> and <i>GJA1</i> Underlying Syndactyly.\",\"authors\":\"Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Najum Uddin, Raja Hussain Ali, Khurram Liaqat, Wasim Ahmad\",\"doi\":\"10.1159/000528651\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Syndactyly is a common congenital limb malformation. It occurs due to embryological failure of digit separation during limb development. Syndactyly often runs in families with an incidence of about one out of every 2,500-3,000 live births.</p><p><strong>Methods: </strong>Here, we have reported two families presenting features of severe forms of syndactyly. The disorder segregated in autosomal recessive in one and in autosomal dominant manner in the second family. Search for the causative variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B.</p><p><strong>Results: </strong>Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in <i>MEGF8</i> in family A and p.(Thr89Ile) in <i>GJA1</i> in family B.</p><p><strong>Conclusion: </strong>In conclusion, the novel findings, presented here, not only expand the mutation spectrum in the genes <i>MEGF8</i> and <i>GJA1</i>, but this will also facilitate screening other families carrying similar clinical features in the Pakistani population.</p>\",\"PeriodicalId\":48566,\"journal\":{\"name\":\"Molecular Syndromology\",\"volume\":\"14 3\",\"pages\":\"201-207\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2023-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267519/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Syndromology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000528651\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/2/1 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000528651","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/2/1 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
Introduction: Syndactyly is a common congenital limb malformation. It occurs due to embryological failure of digit separation during limb development. Syndactyly often runs in families with an incidence of about one out of every 2,500-3,000 live births.
Methods: Here, we have reported two families presenting features of severe forms of syndactyly. The disorder segregated in autosomal recessive in one and in autosomal dominant manner in the second family. Search for the causative variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B.
Results: Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in MEGF8 in family A and p.(Thr89Ile) in GJA1 in family B.
Conclusion: In conclusion, the novel findings, presented here, not only expand the mutation spectrum in the genes MEGF8 and GJA1, but this will also facilitate screening other families carrying similar clinical features in the Pakistani population.
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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