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http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/82649完整後設資料紀錄
| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 李建南(Chien-Nan Lee) | |
| dc.contributor.author | Yu-Mei Liu | en |
| dc.contributor.author | 劉幼梅 | zh_TW |
| dc.date.accessioned | 2022-11-25T07:48:35Z | - |
| dc.date.available | 2024-10-13 | |
| dc.date.copyright | 2021-11-10 | |
| dc.date.issued | 2021 | |
| dc.date.submitted | 2021-10-18 | |
| dc.identifier.citation | Abekhoukh, S., Sahin, H. B., Grossi, M., Zongaro, S., Maurin, T., Madrigal, I., . . . Bardoni, B. (2017). New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes. Disease Models Mechanisms, 10(4), 463-474. doi:10.1242/dmm.025809 Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., Robin, N. H., Youngs, E. L., . . . Butler, M. G. (2011). Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet, 130(4), 517-528. doi:10.1007/s00439-011-0970-4 Cafferkey, M., Ahn, J. W., Flinter, F., Ogilvie, C. (2014). Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome. Am J Med Genet A, 164A(8), 1916-1922. doi:10.1002/ajmg.a.36554 Chen, C.-P., Lin, S.-P., Lee, C.-L., Chern, S.-R., Wu, P.-S., Chen, Y.-N., . . . Wang, W. (2017). Familial transmission of recurrent 15q11. 2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay. Taiwanese Journal of Obstetrics and Gynecology, 56(1), 93-97. Chen, C. P., Chang, S. Y., Wang, L. K., Chang, T. Y., Chern, S. R., Wu, P. S., . . . Wang, W. (2018). Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound. Taiwan J Obstet Gynecol, 57(5), 730-733. doi:10.1016/j.tjog.2018.08.022 Clifton, N. E., Thomas, K. L., Wilkinson, L. S., Hall, J., Trent, S. (2020). FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability. Complex Psychiatry, 6(1-2), 5-19. Cox, D. M., Butler, M. G. (2015). The 15q11.2 BP1-BP2 microdeletion syndrome: a review. Int J Mol Sci, 16(2), 4068-4082. doi:10.3390/ijms16024068 Davis, K. W., Serrano, M., Loddo, S., Robinson, C., Alesi, V., Dallapiccola, B., . . . Butler, M. G. (2019). Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome. Int J Mol Sci, 20(6). doi:10.3390/ijms20061459 De Wolf, V., Brison, N., Devriendt, K., Peeters, H. (2013). Genetic Counseling for Susceptibility Loci and Neurodevelopmental Disorders: The del15q11.2 as an Example. American Journal of Medical Genetics Part A, 161(11), 2846-2854. doi:10.1002/ajmg.a.36209 Domínguez-Iturza, N., Lo, A. C., Shah, D., Armendáriz, M., Vannelli, A., Mercaldo, V., . . . Santos, A. R. (2019). The autism-and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour. Nature communications, 10(1), 1-13. Doornbos, M., Sikkema-Raddatz, B., Ruijvenkamp, C. A., Dijkhuizen, T., Bijlsma, E. K., Gijsbers, A. C., . . . Kerstjens-Frederikse, W. M. (2009). Nine patients with a microdeletion 15q11. 2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances. European Journal of Medical Genetics, 52(2-3), 108-115. Han, J. Y., Park, J. (2021). Phenotypic Diversity of 15q11. 2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review. Diagnostics, 11(4), 722. Hashemi, B., Bassett, A., Chitayat, D., Chong, K., Feldman, M., Flanagan, J., . . . Prasad, C. (2015). Deletion of 15q11. 2 (BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population. American Journal of Medical Genetics Part A, 167(9), 2098-2102. Izumi, N., Fumoto, K., Izumi, S., Kikuchi, A. (2008). GSK-3 #x3b2; Regulates Proper Mitotic Spindle Formation in Cooperation with a Component of the #x3b3;-Tubulin Ring Complex, GCP5 *<sup> </sup>. Journal of Biological Chemistry, 283(19), 12981-12991. doi:10.1074/jbc.M710282200 Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., . . . Lefroy, H. (2019). Estimating the effect size of the 15Q11. 2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Journal of medical genetics, 56(10), 701-710. Lin, Y. H., Jong, Y. J., Huang, P. C., Tsai, C. (2020). Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory. Acta obstetricia et gynecologica Scandinavica, 99(6), 775-782. Maver, A., Čuturilo, G., Kovanda, A., Miletić, A., Peterlin, B. (2019). Rare missense TUBGCP5 gene variant in a patient with primary microcephaly. European Journal of Medical Genetics, 62(12), 103598. Maya, I., Perlman, S., Shohat, M., Kahana, S., Yacobson, S., Tenne, T., . . . Sukenik-Halevy, R. (2020). Should We Report 15q11. 2 BP1-BP2 Deletions and Duplications in the Prenatal Setting? Journal of clinical medicine, 9(8), 2602. Muys, J., Blaumeiser, B., Janssens, K., Loobuyck, P., Jacquemyn, Y. (2020). Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach. Journal of medical ethics, 46(2), 104-109. Rafi, S. K., Butler, M. G. (2020). The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes. Int J Mol Sci, 21(9). doi:10.3390/ijms21093296 Rafi, S. K., Butler, M. G. (2020). The 15q11.2 BP1-BP2 Microdeletion (Burnside–Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders. International Journal of Molecular Sciences, 21(9), 3296. Van Der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., . . . Bernard, M. (2020). Association of copy number variation of the 15q11. 2 BP1-BP2 region with cortical and subcortical morphology and cognition. JAMA Psychiatry, 77(4), 420-430. Vanlerberghe, C., Petit, F., Malan, V., Vincent-Delorme, C., Bouquillon, S., Boute, O., . . . Andrieux, J. (2015). 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. Eur J Med Genet, 58(3), 140-147. doi:10.1016/j.ejmg.2015.01.002 Writing Committee for the, E.-C. N. V. W. G., van der Meer, D., Sonderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., . . . Andreassen, O. A. (2019). Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition. JAMA Psychiatry, 1-11. doi:10.1001/jamapsychiatry.2019.3779 Abekhoukh, S., Sahin, H. B., Grossi, M., Zongaro, S., Maurin, T., Madrigal, I., . . . Bardoni, B. (2017). New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes. Disease Models Mechanisms, 10(4), 463-474. doi:10.1242/dmm.025809 Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., Robin, N. H., Youngs, E. L., . . . Butler, M. G. (2011). Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet, 130(4), 517-528. doi:10.1007/s00439-011-0970-4 Cafferkey, M., Ahn, J. W., Flinter, F., Ogilvie, C. (2014). Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome. Am J Med Genet A, 164A(8), 1916-1922. doi:10.1002/ajmg.a.36554 Chen, C.-P., Lin, S.-P., Lee, C.-L., Chern, S.-R., Wu, P.-S., Chen, Y.-N., . . . Wang, W. (2017). Familial transmission of recurrent 15q11. 2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay. Taiwanese Journal of Obstetrics and Gynecology, 56(1), 93-97. Chen, C. P., Chang, S. Y., Wang, L. K., Chang, T. Y., Chern, S. R., Wu, P. S., . . . Wang, W. (2018). Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound. Taiwan J Obstet Gynecol, 57(5), 730-733. doi:10.1016/j.tjog.2018.08.022 Clifton, N. E., Thomas, K. L., Wilkinson, L. S., Hall, J., Trent, S. (2020). FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability. Complex Psychiatry, 6(1-2), 5-19. Cox, D. M., Butler, M. G. (2015). The 15q11.2 BP1-BP2 microdeletion syndrome: a review. Int J Mol Sci, 16(2), 4068-4082. doi:10.3390/ijms16024068 Davis, K. W., Serrano, M., Loddo, S., Robinson, C., Alesi, V., Dallapiccola, B., . . . Butler, M. G. (2019). Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome. Int J Mol Sci, 20(6). doi:10.3390/ijms20061459 De Wolf, V., Brison, N., Devriendt, K., Peeters, H. (2013). Genetic Counseling for Susceptibility Loci and Neurodevelopmental Disorders: The del15q11.2 as an Example. American Journal of Medical Genetics Part A, 161(11), 2846-2854. doi:10.1002/ajmg.a.36209 Domínguez-Iturza, N., Lo, A. C., Shah, D., Armendáriz, M., Vannelli, A., Mercaldo, V., . . . Santos, A. R. (2019). The autism-and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour. Nature communications, 10(1), 1-13. Doornbos, M., Sikkema-Raddatz, B., Ruijvenkamp, C. A., Dijkhuizen, T., Bijlsma, E. K., Gijsbers, A. C., . . . Kerstjens-Frederikse, W. M. (2009). Nine patients with a microdeletion 15q11. 2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances. European Journal of Medical Genetics, 52(2-3), 108-115. Han, J. Y., Park, J. (2021). Phenotypic Diversity of 15q11. 2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review. Diagnostics, 11(4), 722. Hashemi, B., Bassett, A., Chitayat, D., Chong, K., Feldman, M., Flanagan, J., . . . Prasad, C. (2015). Deletion of 15q11. 2 (BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population. American Journal of Medical Genetics Part A, 167(9), 2098-2102. Izumi, N., Fumoto, K., Izumi, S., Kikuchi, A. (2008). GSK-3 #x3b2; Regulates Proper Mitotic Spindle Formation in Cooperation with a Component of the #x3b3;-Tubulin Ring Complex, GCP5 *<sup> </sup>. Journal of Biological Chemistry, 283(19), 12981-12991. doi:10.1074/jbc.M710282200 Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., . . . Lefroy, H. (2019). Estimating the effect size of the 15Q11. 2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Journal of medical genetics, 56(10), 701-710. Lin, Y. H., Jong, Y. J., Huang, P. C., Tsai, C. (2020). Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory. Acta obstetricia et gynecologica Scandinavica, 99(6), 775-782. Maver, A., Čuturilo, G., Kovanda, A., Miletić, A., Peterlin, B. (2019). Rare missense TUBGCP5 gene variant in a patient with primary microcephaly. European Journal of Medical Genetics, 62(12), 103598. Maya, I., Perlman, S., Shohat, M., Kahana, S., Yacobson, S., Tenne, T., . . . Sukenik-Halevy, R. (2020). Should We Report 15q11. 2 BP1-BP2 Deletions and Duplications in the Prenatal Setting? Journal of clinical medicine, 9(8), 2602. Muys, J., Blaumeiser, B., Janssens, K., Loobuyck, P., Jacquemyn, Y. (2020). Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach. Journal of medical ethics, 46(2), 104-109. Rafi, S. K., Butler, M. G. (2020). The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes. Int J Mol Sci, 21(9). doi:10.3390/ijms21093296 Rafi, S. K., Butler, M. G. (2020). The 15q11.2 BP1-BP2 Microdeletion (Burnside–Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders. International Journal of Molecular Sciences, 21(9), 3296. Van Der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., . . . Bernard, M. (2020). Association of copy number variation of the 15q11. 2 BP1-BP2 region with cortical and subcortical morphology and cognition. JAMA Psychiatry, 77(4), 420-430. Vanlerberghe, C., Petit, F., Malan, V., Vincent-Delorme, C., Bouquillon, S., Boute, O., . . . Andrieux, J. (2015). 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. Eur J Med Genet, 58(3), 140-147. doi:10.1016/j.ejmg.2015.01.002 Writing Committee for the, E.-C. N. V. W. G., van der Meer, D., Sonderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., . . . Andreassen, O. A. (2019). Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition. JAMA Psychiatry, 1-11. doi:10.1001/jamapsychiatry.2019.3779 Xie, H., Zhang, Y., Zhang, P., Wang, J., Wu, Y., Wu, X., . . . Jiang, Y. (2014). Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy. PLoS One, 9(10), e109749. doi:10.1371/journal.pone.0109749 | |
| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/82649 | - |
| dc.description.abstract | "產前遺傳檢測做染色體的核型分析(Karyotype Analysis)已經行之有年，因為染色體異常而造成臨床上的疾病都能準確的檢查出來，減少了許多家庭因為生出異常下一代而面臨困境的機率，但仍有一些孩子們發生智能障礙及發展遲緩甚至先天性多重異常。 現代醫療水準的發展日新月異，染色體微陣列分析(chromosome microarray assay)(CMA)在產前遺傳檢測中是一種較新的診斷技術，可高度準確地篩選基因組的拷貝數變異(Copy Number Variation ,CNV)，進而診斷出許多罕見的染色體異常(通常是屬於發育障礙的易感基因座)，尤其是在智能障礙（Intellectual disability）和自閉症障礙（autism spectrum disorder）的病因診斷工作上有很大的進展。 本次研究是探討染色體微片段缺失15q11.2 (BP1-BP2) deletion syndrome (Burnside-Butler綜合症)的基因及臨床表現，15q11.2 (BP1-BP2)包含4個的基因：TUBGCP5，NIPA1，NIPA2和CYFIP1，遺傳模式是體染色體顯性遺傳，目前對此區域變異的臨床意義不明確，可能為良性變異，也可能具有臨床表現多變性，與不完全外顯率的現象。除了針對文獻進行回顧，從各文獻總結數百例具有15q11.2(BP1-BP2)微缺失個案的臨床症狀和細胞遺傳學發現，以及受此微缺失的基因影響而有異常表徵者及其家人的相關診斷及諮詢外，並收集了25例經由羊水染色體微陣列分析出帶有15q11.2缺失的產前個案，通過查閱病歷以了解超音波檢查結果(如心臟及腦部)及周產期的變化及發現，進而評估其結果是否能提供15q11.2(BP1-BP2)微缺失的產前診斷的一個參考。研究結果顯示位在這個區域內的缺失不論在產前檢查及生產時，並沒有因為缺失長或短而有不同的臨床表現。雖然如此，此區域之四個基因屬於神經易感基因，若能持續追蹤成長過程中的發展狀況，或許可以發現神經發育障礙相關的表現。" | zh_TW |
| dc.description.provenance | Made available in DSpace on 2022-11-25T07:48:35Z (GMT). No. of bitstreams: 1 U0001-1610202123200800.pdf: 2556454 bytes, checksum: 82b29e665cc712412b9cbce601375558 (MD5) Previous issue date: 2021 | en |
| dc.description.tableofcontents | "口試委員審定書..................................................... Ⅰ 致謝............................................................... Ⅱ 摘要............................................................... Ⅲ Abstract........................................................... Ⅳ 第一章 研究背景與動機 1.1. 15q11.2 (BP1-BP2) deletion syndrome研究目的.................. 01 1.2. 15q11.2 (BP1-BP2) deletion syndrome發生率、盛行率............ 02 1.3. 15q11.2 (BP1-BP2) deletion syndrome診斷標準.................. 03 1.3.1 15q11.2 (BP1-BP2) 基因概論............................. 03 1.3.2 15q11.2（BP1-BP2）基因位置圖示......................... 03 1.3.3 15q11.2 (BP1-BP2) 基因個別特徵描述..................... 04 1.4. 文獻報告................................................... 06 第二章 研究方法 2.1 回顧文獻................................................... 10 2.2 個案收集................................................... 10 2.3 檢驗方法................................................... 10 第三章 結果 3.1 產前個案分析............................................... 11 3.2 遺傳來源統計............................................... 11 3.3 周產期結果統計............................................. 12 3.4 異常超音波結果發現......................................... 12 3.5 產後表現................................................... 13 第四章 討論........................................................14 第五章 結論........................................................18 第六章 參考文獻....................................................20 第七章 圖目錄 圖1: 15q11.2( BP1-BP2) 基因位置圖示............................. 23 圖2. 突觸中的 FMRP and CYFIP1及他們在神經易感性方面所扮演的角色.................... 24 圖3. 15q11.2( BP1-BP2)微缺失綜合徵個體發育的文獻綜述........... 25 圖4. 韓國人Han Park, 2021發表記錄了三個來自不同家庭經由aCGH檢測結果為15q11.2(BP1-BP2)微缺失的個案........................26 圖5. 將25例個案的15q11.2微缺失片段分別標示在染色體15q11.2基因位置圖. ..................27 第八章 表目錄 表1. 15q11.2( BP1-BP2)微缺失綜合徵個體發育的文獻綜述............ 28 表2. 帶有15q11.2 BP1-BP2微缺失產前個案的表現.................... 29 表3. 帶有15q11.2 BP1-BP2微缺失產前個案的遺傳來源................ 30 表4. 帶有15q11.2(BP1-BP2)微缺失產前個案的周產期結果............. 31 表5. 帶有15q11.2 BP1-BP2微缺失產前個案的異常超音波發現.......... 32 第九章 附錄 9.1台大醫院人體試驗委員會通過證明(1)............................ 33 9.2台大醫院人體試驗委員會通過證明(2)............................. 35" | |
| dc.language.iso | zh-TW | |
| dc.subject | 神經易感基因 | zh_TW |
| dc.subject | 15q11.2 (BP1-BP2) del | zh_TW |
| dc.subject | 染色體微陣列分析 | zh_TW |
| dc.subject | 基因組拷貝數變異 | zh_TW |
| dc.subject | TUBGCP5 | zh_TW |
| dc.subject | NIPA1 | zh_TW |
| dc.subject | NIPA2 | zh_TW |
| dc.subject | CYFIP1 | zh_TW |
| dc.subject | chromosome microarray assay(CMA) | en |
| dc.subject | NIPA2 | en |
| dc.subject | NIPA1 | en |
| dc.subject | TUBGCP5 | en |
| dc.subject | Copy Number Variation(CNV) | en |
| dc.subject | 15q11.2 (BP1-BP2) del | en |
| dc.subject | neurological susceptibility gene | en |
| dc.subject | CYFIP1 | en |
| dc.title | 探討第15號染色體長臂在q11.2(BP1-BP2) 區域微片段缺失之基因及臨床表現 | zh_TW |
| dc.title | Explore genetic and clinical expression of the 15q11.2 (BP1-BP2) microdeletion ( Burnside-Butler) Syndrome | en |
| dc.date.schoolyear | 109-2 | |
| dc.description.degree | 碩士 | |
| dc.contributor.coadvisor | 林芯伃(Shin-Yu Lin) | |
| dc.contributor.oralexamcommittee | 張舜智(Hsin-Tsai Liu),(Chih-Yang Tseng) | |
| dc.subject.keyword | 15q11.2 (BP1-BP2) del,染色體微陣列分析,基因組拷貝數變異,TUBGCP5,NIPA1,NIPA2,CYFIP1,神經易感基因, | zh_TW |
| dc.subject.keyword | 15q11.2 (BP1-BP2) del,chromosome microarray assay(CMA),Copy Number Variation(CNV),TUBGCP5,NIPA1,NIPA2,CYFIP1,neurological susceptibility gene, | en |
| dc.relation.page | 36 | |
| dc.identifier.doi | 10.6342/NTU202103787 | |
| dc.rights.note | 同意授權(限校園內公開) | |
| dc.date.accepted | 2021-10-19 | |
| dc.contributor.author-college | 醫學院 | zh_TW |
| dc.contributor.author-dept | 分子醫學研究所 | zh_TW |
| dc.date.embargo-lift | 2024-10-13 | - |
| 顯示於系所單位： | 分子醫學研究所 | |
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