基因剪切位點突變

基因剪切位點突變（英語：Splice site mutation）是一種發生於核苷酸特定位點的遗传突變。這些突變包括插入、删除或序列的改變，影響了RNA剪接處^[1]，並可能導致產生的蛋白质失去功能^[2]。

臨床意義

侏儒症併肌肉、肝、腦、眼異常

侏儒症併肌肉、肝、腦、眼異常（英语：Mulibrey nanism）（Mulibrey nanism）是一種表現為先天性生長障礙的罕見常染色體隱性遺傳病，可以波及身體內多個器官，最初於1970年在芬蘭首次報道。目前已有TRIM 37基因剪接位點突變導致此疾病的報道。例如在芬蘭患者中檢出TRIM37基因剪接區IVS6-2A＞G變異^[3]、在土耳其患者中發現TRIM37基因IVS9-1G＞A純合變異^[4]，以及在澳洲患者中發現TRIM37基因IVS10-1G＞A與c.326G＞C（p.Cys109Ser）復合雜合變異^[5]。

參考資料

^ Berget, Susan. Exon Recognition in Vertebrate Splicing. The Journal of Biological Chemistry. [2019-01-23]. （原始内容存档于2020-03-01）.
^ Understanding Cancer Genomics: Splice Site Mutations. National Cancer Institute. [2019-01-25]. （原始内容存档于2020-02-03）.
^ Jagiello, P; Hammans, C; Wieczorek, S; Arning, L; Stefanski, A; Strehl, H; Epplen, JT; Gencik, M. A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.. Human mutation. 2003-06, 21 (6): 630–5 [2020-02-01]. PMID 12754710. doi:10.1002/humu.10220. （原始内容存档于2020-02-01）.
^ Avela, K; Lipsanen-Nyman, M; Idänheimo, N; Seemanová, E; Rosengren, S; Mäkelä, TP; Perheentupa, J; Chapelle, AD; Lehesjoki, AE. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.. Nature genetics. 2000-07, 25 (3): 298–301 [2020-02-01]. PMID 10888877. doi:10.1038/77053. （原始内容存档于2020-02-01）.
^ Hämäläinen, RH; Mowat, D; Gabbett, MT; O'brien, TA; Kallijärvi, J; Lehesjoki, AE. Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.. Clinical genetics. 2006-12, 70 (6): 473–9 [2020-02-01]. PMID 17100991. doi:10.1111/j.1399-0004.2006.00700.x. （原始内容存档于2020-02-01）.

[Exon_Recognition-1] Berget, Susan. Exon Recognition in Vertebrate Splicing. The Journal of Biological Chemistry. [2019-01-23]. （原始内容存档于2020-03-01）.

[Understanding_Cancer_Genomics-2] Understanding Cancer Genomics: Splice Site Mutations. National Cancer Institute. [2019-01-25]. （原始内容存档于2020-02-03）.

[3] Jagiello, P; Hammans, C; Wieczorek, S; Arning, L; Stefanski, A; Strehl, H; Epplen, JT; Gencik, M. A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.. Human mutation. 2003-06, 21 (6): 630–5 [2020-02-01]. PMID 12754710. doi:10.1002/humu.10220. （原始内容存档于2020-02-01）.

[4] Avela, K; Lipsanen-Nyman, M; Idänheimo, N; Seemanová, E; Rosengren, S; Mäkelä, TP; Perheentupa, J; Chapelle, AD; Lehesjoki, AE. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.. Nature genetics. 2000-07, 25 (3): 298–301 [2020-02-01]. PMID 10888877. doi:10.1038/77053. （原始内容存档于2020-02-01）.

[5] Hämäläinen, RH; Mowat, D; Gabbett, MT; O'brien, TA; Kallijärvi, J; Lehesjoki, AE. Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.. Clinical genetics. 2006-12, 70 (6): 473–9 [2020-02-01]. PMID 17100991. doi:10.1111/j.1399-0004.2006.00700.x. （原始内容存档于2020-02-01）.

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