N. Amllal , J. Lyahyai , S.C. Elalaoui , A. Sefiani , I. Ratbi
{"title":"一名女性患者的 MED12 基因首次出现无义变异,并伴有完全的 Maat-Kievit-Brunner 表型(Ohdo 综合征):病例报告","authors":"N. Amllal , J. Lyahyai , S.C. Elalaoui , A. Sefiani , I. Ratbi","doi":"10.1016/j.genrep.2024.102005","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Ohdo syndrome (OMIM≠ 249,620) is a clinically heterogeneous group of genetic disorders mainly characterized by intellectual disability, blepharophimosis and specific facial features. It comprises five distinct subtypes, each exhibiting unique clinical characteristics. Herein, we report a novel case of the Maat-Kievit-Brunner (OSMKB; X-linked recessive) subtype caused by a novel pathogenic <em>MED12</em> nonsense variant, classically associated with missense variants of the <em>MED12</em> gene (Xq13.1). Moreover, we conduct a comparative analysis of reported <em>MED12</em> pathogenic variants in the literature.</p></div><div><h3>Case presentation</h3><p>Our patient is a five-year-old girl demonstrating a complete OSMKB phenotype. She exhibits all the characteristic features associated to this latter including intellectual disability, developmental delay, indicative dysmorphia featured by blepharophemosis and a triangular face, and hypotonia.</p></div><div><h3>Conclusions</h3><p>clinical and molecular data of this rare case expands the clinical and genetic landscapes of <em>MED12</em> gene which is considered important for establishing strong genotype-phenotype correlations as much as for genetic counselling.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report\",\"authors\":\"N. Amllal , J. Lyahyai , S.C. Elalaoui , A. Sefiani , I. Ratbi\",\"doi\":\"10.1016/j.genrep.2024.102005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>Ohdo syndrome (OMIM≠ 249,620) is a clinically heterogeneous group of genetic disorders mainly characterized by intellectual disability, blepharophimosis and specific facial features. It comprises five distinct subtypes, each exhibiting unique clinical characteristics. Herein, we report a novel case of the Maat-Kievit-Brunner (OSMKB; X-linked recessive) subtype caused by a novel pathogenic <em>MED12</em> nonsense variant, classically associated with missense variants of the <em>MED12</em> gene (Xq13.1). Moreover, we conduct a comparative analysis of reported <em>MED12</em> pathogenic variants in the literature.</p></div><div><h3>Case presentation</h3><p>Our patient is a five-year-old girl demonstrating a complete OSMKB phenotype. She exhibits all the characteristic features associated to this latter including intellectual disability, developmental delay, indicative dysmorphia featured by blepharophemosis and a triangular face, and hypotonia.</p></div><div><h3>Conclusions</h3><p>clinical and molecular data of this rare case expands the clinical and genetic landscapes of <em>MED12</em> gene which is considered important for establishing strong genotype-phenotype correlations as much as for genetic counselling.</p></div>\",\"PeriodicalId\":12673,\"journal\":{\"name\":\"Gene Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-08-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2452014424001286\",\"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":"Gene Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2452014424001286","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report
Background
Ohdo syndrome (OMIM≠ 249,620) is a clinically heterogeneous group of genetic disorders mainly characterized by intellectual disability, blepharophimosis and specific facial features. It comprises five distinct subtypes, each exhibiting unique clinical characteristics. Herein, we report a novel case of the Maat-Kievit-Brunner (OSMKB; X-linked recessive) subtype caused by a novel pathogenic MED12 nonsense variant, classically associated with missense variants of the MED12 gene (Xq13.1). Moreover, we conduct a comparative analysis of reported MED12 pathogenic variants in the literature.
Case presentation
Our patient is a five-year-old girl demonstrating a complete OSMKB phenotype. She exhibits all the characteristic features associated to this latter including intellectual disability, developmental delay, indicative dysmorphia featured by blepharophemosis and a triangular face, and hypotonia.
Conclusions
clinical and molecular data of this rare case expands the clinical and genetic landscapes of MED12 gene which is considered important for establishing strong genotype-phenotype correlations as much as for genetic counselling.
Gene ReportsBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.30
自引率
7.70%
发文量
246
审稿时长
49 days
期刊介绍:
Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.