دورية أكاديمية
Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.
| العنوان: | Short report: Twins with 20p13 duplication. Case report and comprehensive literature review. |
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| المؤلفون: | Kennedy BJ; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA., Savage SK; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Kaler SG; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA. |
| المصدر: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 May; Vol. 12 (5), pp. e2436. |
| نوع المنشور: | Journal Article; Case Reports; Review; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]- |
| مواضيع طبية MeSH: | Trisomy*/genetics, Humans ; Male ; Chromosome Duplication ; Child, Preschool ; Twins, Monozygotic/genetics ; Polymorphism, Single Nucleotide |
| مستخلص: | Background: Trisomy 20p is a rare genetic condition caused by a duplication of the short arm of chromosome 20. Methods: We employed clinical observation and molecular genetic testing (SNP microarray), to study identical twin males with an unknown dysmorphic syndrome. We conducted a literature review of trisomy 20p and collated the clinical and molecular genetic findings on 20 affected subjects reported since 2000. Results: Identical twin males, whose prenatal course was complicated by a twin-to-twin transfusion, manifested profound language and neurocognitive delays as well as distinctive facial dysmorphisms when evaluated at 2 years of age. SNP microarray identified identical duplications of 20p13 with no other chromosomal aberrations. A literature survey of 20p trisomy syndrome identified 20 other examples of this condition reported since 2000, which we collated with 33 summarized by Sidwell et al. (2000). Within the combined total of 55 affected individuals, we found a distinctive clinical phenotype that provides insight on the effects of abnormal dosage of genes in 20p13. These loci include FAM110A (OMIM 611393), ANGPT4 (OMIM 603705), RSPO4 (OMIM 610573), PSMF1 (OMIM 617858), SNPH (OMIM 604942), SDCBP2 (OMIM 617358), FKBP1A (OMIM 186945), TMEM74B, C20orf202, and RAD21L1 (OMIM 619533). Gene profiling highlighted that syntaphilin (SNPH) is highly expressed in mammalian brain, where it is considered critical for mitochondrial transport in neuronal axons, and to directly influence axonal morphogenesis and function. Conclusion: We propose that abnormal activity of syntaphilin engendered by the trisomy is primarily responsible for the language, neurocognitive, and gross motor delays reported in individuals with 20p trisomy. Additional studies, for example, characterization of cerebral organoids generated from affected patients may help to better understand this condition, and potentially suggest rational remedies to improve the lives of affected individuals and their families. (© 2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.) |
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| معلومات مُعتمدة: | Research Institute, Nationwide Children's Hospital |
| فهرسة مساهمة: | Keywords: 20p13 duplication; gene duplication; syntaphilin; trisomy 20p; twin‐twin transfusion syndrome |
| تواريخ الأحداث: | Date Created: 20240513 Date Completed: 20240513 Latest Revision: 20240516 |
| رمز التحديث: | 20240516 |
| مُعرف محوري في PubMed: | PMC11089493 |
| DOI: | 10.1002/mgg3.2436 |
| PMID: | 38738460 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2324-9269 |
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| DOI: | 10.1002/mgg3.2436 |