تقرير
NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.
| العنوان: | NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly. |
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| المؤلفون: | Bas H; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Saylisoy S; Faculty of Medicine, Department of Radiology, Eskisehir Osmangazi University, Eskişehir, Turkey., Cilingir O; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Gokalp EE; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Kocagil S; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Yarar C; Faculty of Medicine, Department of Pediatric Neurology, Eskisehir Osmangazi University, Eskişehir, Turkey., Aras BD; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Artan S; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 326-331. Date of Electronic Publication: 2021 Sep 25. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Hydranencephaly*/diagnosis , Hydranencephaly*/genetics , Lissencephaly*/diagnosis , Lissencephaly*/genetics , Microcephaly*/diagnosis , Microcephaly*/genetics, Humans ; Male ; Microtubule-Associated Proteins/genetics |
| مستخلص: | NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease. (© 2021 Wiley Periodicals LLC.) |
| References: | Abdel-Hamid, M. S., El-Dessouky, S. H., Ateya, M. I., Gaafar, H. M., & Abdel-Salam, G. M. (2019). Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. American Journal of Medical Genetics Part A, 179(3), 494-497. Alkuraya, F. S., Cai, X., Emery, C., Mochida, G. H., Al-Dosari, M. S., Felie, J. M., … Gascon, G. G. (2011). Human mutations in NDE1 cause extreme microcephaly with lissencephaly. The American Journal of Human Genetics, 88(5), 536-547. Bakircioglu, M., Carvalho, O. P., Khurshid, M., Cox, J. J., Tuysuz, B., Barak, T., … Nicholas, A. K. (2011). The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. The American Journal of Human Genetics, 88(5), 523-535. Bodurtha, J. N., & Duis, J. (2014). Signs and symptoms of genetic conditions-A handbook. Journal of Pediatric Genetics, 3(3), 183. Feng, Y., Olson, E. C., Stukenberg, P. T., Flanagan, L. A., Kirschner, M. W., & Walsh, C. A. (2000). LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron, 28(3), 665-679. Feng, Y., & Walsh, C. A. (2004). Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron, 44(2), 279-293. Guven, A., Gunduz, A., Bozoglu, T. M., Yalcinkaya, C., & Tolun, A. (2012). Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics, 13(3), 189-194. Jayaraman, D., Bae, B.-I., & Walsh, C. A. (2018). The genetics of primary microcephaly. Annual Review of Genomics and Human Genetics, 19, 177-200. Paciorkowski, A. R., Keppler-Noreuil, K., Robinson, L., Sullivan, C., Sajan, S., Christian, S. L., … Sherr, E. H. (2013). Deletion 16p13. 11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. American Journal of Medical Genetics Part A, 161(7), 1523-1530. Pawlisz, A. S., Mutch, C., Wynshaw-Boris, A., Chenn, A., Walsh, C. A., & Feng, Y. (2008). Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Human Molecular Genetics, 17(16), 2441-2455. Soto-Perez, J., Baumgartner, M., & Kanadia, R. N. (2020). Role of NDE1 in the development and evolution of the gyrified cortex. Frontiers in Neuroscience, 14. https://doi.org/10.3389/fnins.2020.617513. Tan, L., Bi, B., Zhao, P., Cai, X., Wan, C., Shao, J., & He, X. (2017). Severe congenital microcephaly with 16p13. 11 microdeletion combined with NDE1 mutation, a case report and literature review. BMC Medical Genetics, 18(1), 1-6. Vergnolle, M. A., & Taylor, S. S. (2007). Cenp-F links kinetochores to Ndel1/Nde1/Lis1/dynein microtubule motor complexes. Current Biology, 17(13), 1173-1179. |
| فهرسة مساهمة: | Keywords: NDE1; microcephaly; microhydranencephaly; microlissencephaly |
| المشرفين على المادة: | 0 (Microtubule-Associated Proteins) 0 (Nde1 protein, human) |
| SCR Disease Name: | Microhydranencephaly |
| تواريخ الأحداث: | Date Created: 20210925 Date Completed: 20220407 Latest Revision: 20220407 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1002/ajmg.a.62508 |
| PMID: | 34562061 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62508 |