Ling Liu , Mengjie Zhou , Jianmei Mao , Yuqi Deng , Yan Cai
{"title":"与DOCK6基因c. 31903191del和c.4491 + 1G > T突变相关的亚当斯-奥利弗综合征1例","authors":"Ling Liu , Mengjie Zhou , Jianmei Mao , Yuqi Deng , Yan Cai","doi":"10.1016/j.mgene.2021.100988","DOIUrl":null,"url":null,"abstract":"<div><p>Background</p><p>Adams–Oliver syndrome (AOS [MIM <span>100300</span><svg><path></path></svg>]) is a rare, multiple malformation syndrome commonly characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Brain abnormalities and heart defects are also present in most patients. Both autosomal-dominant and autosomal-recessive inheritance of the disease have been observed. To date, six causative genes have been identified: <em>ARHGAP31</em>, <em>DOCK6</em>, <em>EOGT, RBPJ</em>, <em>NOTCH1</em>, and <em>DLL4</em>. Autosomal-recessive mutations are mostly associated with <em>DOCK6</em> (MIM: <span>614219</span><svg><path></path></svg>) and <em>EOGT</em> (MIM: <span>615297</span><svg><path></path></svg>), while mutations in <em>ARHGAP31</em> (MIM: <span>100300</span><svg><path></path></svg>), <em>RBPJ</em> (MIM: <span>614814</span><svg><path></path></svg>), <em>NOTCH1</em> (MIM: <span>616028</span><svg><path></path></svg>), and <em>DLL4</em> (MIM: <span>616589</span><svg><path></path></svg>) have been linked to autosomal-dominant inheritance.</p><p>Case</p><p>We report a case of AOS caused by <em>DOCK6</em> mutations (c.3190_3191del and c.4491 + 1G > T), showing no signs of scalp ACC or TTLD, but with bilateral ventricular dilation and ophthalmic abnormalities. Results of whole-exome high-throughput sequencing were analyzed using a combination of pathogenicity prediction algorithms, query of variant databases, and review of the literature. Candidate gene variation sites were identified for pedigree verification.</p><p>Conclusions</p><p>The correlation between the genotype and phenotype of AOS has great variability, and the specific pathogenesis of AOS remains to be further studied.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 100988"},"PeriodicalIF":0.8000,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214540021001390/pdfft?md5=dcbb4a66dc9ab72c8196c378acd664dd&pid=1-s2.0-S2214540021001390-main.pdf","citationCount":"1","resultStr":"{\"title\":\"A case of Adams-Oliver syndrome associated with c.3190_3191del and c.4491 + 1G > T mutations in the DOCK6 gene\",\"authors\":\"Ling Liu , Mengjie Zhou , Jianmei Mao , Yuqi Deng , Yan Cai\",\"doi\":\"10.1016/j.mgene.2021.100988\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Background</p><p>Adams–Oliver syndrome (AOS [MIM <span>100300</span><svg><path></path></svg>]) is a rare, multiple malformation syndrome commonly characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Brain abnormalities and heart defects are also present in most patients. Both autosomal-dominant and autosomal-recessive inheritance of the disease have been observed. To date, six causative genes have been identified: <em>ARHGAP31</em>, <em>DOCK6</em>, <em>EOGT, RBPJ</em>, <em>NOTCH1</em>, and <em>DLL4</em>. Autosomal-recessive mutations are mostly associated with <em>DOCK6</em> (MIM: <span>614219</span><svg><path></path></svg>) and <em>EOGT</em> (MIM: <span>615297</span><svg><path></path></svg>), while mutations in <em>ARHGAP31</em> (MIM: <span>100300</span><svg><path></path></svg>), <em>RBPJ</em> (MIM: <span>614814</span><svg><path></path></svg>), <em>NOTCH1</em> (MIM: <span>616028</span><svg><path></path></svg>), and <em>DLL4</em> (MIM: <span>616589</span><svg><path></path></svg>) have been linked to autosomal-dominant inheritance.</p><p>Case</p><p>We report a case of AOS caused by <em>DOCK6</em> mutations (c.3190_3191del and c.4491 + 1G > T), showing no signs of scalp ACC or TTLD, but with bilateral ventricular dilation and ophthalmic abnormalities. Results of whole-exome high-throughput sequencing were analyzed using a combination of pathogenicity prediction algorithms, query of variant databases, and review of the literature. Candidate gene variation sites were identified for pedigree verification.</p><p>Conclusions</p><p>The correlation between the genotype and phenotype of AOS has great variability, and the specific pathogenesis of AOS remains to be further studied.</p></div>\",\"PeriodicalId\":38190,\"journal\":{\"name\":\"Meta Gene\",\"volume\":\"31 \",\"pages\":\"Article 100988\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2022-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2214540021001390/pdfft?md5=dcbb4a66dc9ab72c8196c378acd664dd&pid=1-s2.0-S2214540021001390-main.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Meta Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214540021001390\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Meta Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214540021001390","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
A case of Adams-Oliver syndrome associated with c.3190_3191del and c.4491 + 1G > T mutations in the DOCK6 gene
Background
Adams–Oliver syndrome (AOS [MIM 100300]) is a rare, multiple malformation syndrome commonly characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Brain abnormalities and heart defects are also present in most patients. Both autosomal-dominant and autosomal-recessive inheritance of the disease have been observed. To date, six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. Autosomal-recessive mutations are mostly associated with DOCK6 (MIM: 614219) and EOGT (MIM: 615297), while mutations in ARHGAP31 (MIM: 100300), RBPJ (MIM: 614814), NOTCH1 (MIM: 616028), and DLL4 (MIM: 616589) have been linked to autosomal-dominant inheritance.
Case
We report a case of AOS caused by DOCK6 mutations (c.3190_3191del and c.4491 + 1G > T), showing no signs of scalp ACC or TTLD, but with bilateral ventricular dilation and ophthalmic abnormalities. Results of whole-exome high-throughput sequencing were analyzed using a combination of pathogenicity prediction algorithms, query of variant databases, and review of the literature. Candidate gene variation sites were identified for pedigree verification.
Conclusions
The correlation between the genotype and phenotype of AOS has great variability, and the specific pathogenesis of AOS remains to be further studied.
Meta GeneBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍:
Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.