Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion

Taiwanese Journal of Obstetrics and Gynecology - Tập 59 - Trang 432-436 - 2020
Chih-Ping Chen1,2,3,4,5,6, Liang-Kai Wang1, Schu-Rern Chern2, Peih-Shan Wu7, Shin-Wen Chen1, Fang-Tzu Wu1, Yun-Yi Chen2, Chen-Wen Pan1, Wayseen Wang2,8
1Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
2Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
3Department of Biotechnology, Asia University, Taichung, Taiwan
4School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan
5Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan
6Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan
7Gene Biodesign Co. Ltd, Taipei, Taiwan
8Department of Bioengineering, Tatung University, Taipei, Taiwan

Tài liệu tham khảo

Sharp, 2007, Characterization of a recurrent 15q24 microdeletion syndrome, Hum Mol Genet, 16, 567, 10.1093/hmg/ddm016 Klopocki, 2008, A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH, Eur J Pediatr, 167, 903, 10.1007/s00431-007-0616-7 El-Hattab, 2009, Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping, Hum Genet, 126, 589, 10.1007/s00439-009-0706-x McInnes, 2010, A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region, Mol Autism, 1, 5, 10.1186/2040-2392-1-5 Magoulas, 2012, Chromosome 15q24 microdeletion syndrome, Orphanet J Rare Dis, 7, 2, 10.1186/1750-1172-7-2 Mefford, 2012, Further clinical and molecular delineation of the 15q24 microdeletion syndrome, J Med Genet, 49, 110, 10.1136/jmedgenet-2011-100499 Mefford, 1993, 15q24 microdeletion syndrome Kawaguchi, 2007, A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A, Science, 315, 820, 10.1126/science.1136244 Pasutto, 2007, Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation, Am J Hum Genet, 80, 550, 10.1086/512203 Golzio, 2007, Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6, Am J Hum Genet, 80, 1179, 10.1086/518177 Yang, 1993, Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme, Endocrinology, 132, 1977, 10.1210/endo.132.5.7682938 Tajima, 2001, Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency, J Clin Endocrinol Metab, 86, 3820, 10.1210/jcem.86.8.7748 Katsumata, 2002, Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans, J Clin Endocrinol Metab, 87, 3808, 10.1210/jcem.87.8.8763 Deng, 2019, Sema7A, a brain immune regulator, regulates seizure activity in PTZ-kindled epileptic rats, CNS Neurosci Ther Pasterkamp, 2003, Semaphorin 7A promotes axon outgrowth through integrins and MAPKs, Nature, 424, 398, 10.1038/nature01790 Pasterkamp, 2007, Expression patterns of semaphorin7A and plexinC1 during rat neural development suggest roles in axon guidance and neuronal migration, BMC Dev Biol, 7, 98, 10.1186/1471-213X-7-98 van Rijn, 2016, Semaphorin 7A promotes chemokine-driven dendritic cell migration, J Immunol, 196, 459, 10.4049/jimmunol.1403096 Parkash, 2015, Semaphorin7A regulates neuroglial plasticity in the adult hypothalamic median eminence, Nat Commun, 6, 6385, 10.1038/ncomms7385 Kortschak, 2000, ARID proteins come in from the desert, Trends Biochem Sci, 25, 294, 10.1016/S0968-0004(00)01597-8 Takebe, 2006, Microarray analysis of PDGFRα+ populations in ES cell differentiation culture identifies genes involved in differentiation of mesoderm and mesenchyme including ARID3b that is essential for development of embryonic mesenchymal cells, Dev Biol, 293, 25, 10.1016/j.ydbio.2005.12.016 Uribe, 2014, Arid3b is essential for second heart field cell deployment and heart patterning, Development, 141, 4168, 10.1242/dev.109918 Armstrong, 1992, The c-src tyrosine kinase (CSK) gene, a potential antioncogene, localizes to human chromosome region 15q23-q25, Cytogenet Cell Genet, 60, 119, 10.1159/000133318 Cui, 2019, SUMOylation of Csk negatively modulates its tumor suppressor function, Neoplasia, 21, 676, 10.1016/j.neo.2019.04.010 Reim, 2005, Structurally and functionally unique complexins at retinal ribbon synapses, J Cell Biol, 169, 669, 10.1083/jcb.200502115 Witteveen, 2016, Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity, Nat Genet, 48, 877, 10.1038/ng.3619 Brun, 2012, 1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype, Eur J Med Genet, 55, 135, 10.1016/j.ejmg.2011.11.006 Narumi, 2012, Myelodysplastic syndrome in a child with 15q24 deletion syndrome, Am J Med Genet, 158A, 412, 10.1002/ajmg.a.34395 Samuelsson, 2015, Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability, Eur J Med Genet, 58, 111, 10.1016/j.ejmg.2014.12.006