ARID1B基因導致Coffin-Siris綜合征伴癲癇一例并文獻復習_Journal of Epilepsy

Authors：

韓清梅 ¹ , 陶德雙 ² , 周靜宜 ¹ ,  王菊莉 ²

1. ;
2. ;

Corresponding?author：

王菊莉, Email: wjl198981@163.com

Keywords：

DOI：

10.7507/2096-0247.20220021

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Citation： 韓清梅, 陶德雙, 周靜宜, 王菊莉. ARID1B基因導致Coffin-Siris綜合征伴癲癇一例并文獻復習. Journal of Epilepsy, 2022, 8(1): 90-93. doi: 10.7507/2096-0247.20220021 Copy

1.	Schrier Vergano S, Santen G, Wieczorek D, et al. Coffin-Siris Syndrome. In:Adam MP, Ardinger HH, Pagon RA, et al. , eds. GeneReviews? Internet. Seattle (WA):University of Washington, Seattle, April 4, 2013, [updatedAug12: 2021.
2.	Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Child, 1970, 119(5): 433-439.
3.	Moffat JJ, Jung EM, Ka M, et al. The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior. Prog Neuropsychopharmacol Biol Psychiatry. 2019, 89: 30-38.
4.	Bögershausen N, Wollnik B. Mutational landscapes and phenotypic spectrum of SWI/SNF-related intellectual disability disorders. Front Mol Neurosci. 2018, 11: 252.
5.	Tsurusaki Y, Okamoto N, Ohashi H, et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012, 44(4): 376-378.
6.	Van der Sluijs PJ, Jansen S, Vergano SA, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019, 21(6): 1295-1307.
7.	Hoyer J, Ekici AB, Endele S, et al. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012, 90(3): 565-572.
8.	Takenouchi T, Yoshihashi H, Sakaguchi Y, et al. Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. Am J Med Genet A. 2016, 170(12): 3249-3252.
9.	Curcio MR, Ferranti S, Lotti F, et al. Coffin-Siris syndrome and epilepsy. Neurol Sci. 2021, 42(2): 727-729.
10.	Ka M, Chopra DA, Dravid SM, Kim WY. Essential roles for ARID1B in dendritic arborization and spine morphology of developing pyramidal neurons. J Neurosci. 2016, 36(9): 2723-2742.
11.	Jung EM, Moffat JJ, Liu J, et al. Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. Nat Neurosci. 2017, 20(12): 1694-1707.
12.	Celen C, Chuang JC, Luo X, et al. Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. Elife. 2017, 6: e25730.
13.	Kosho T, Okamoto N. Coffin-Siris Syndrome international collaborators, genotype-phenotype correlation of Coffin-Siris Syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet, 2014, 166C(3): 262-275.
14.	Santen GW, Aten E, Vulto-van Silfhout AT, et al. Coffin-Siris Syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013, 34(11): 1519-1528.
15.	Tsurusaki Y, Okamoto N, Ohashi H, et al. Coffin-Siris Syndrome is a SWI/SNF complex disorder. Clin Genet. 2014, 85(6): 548-554.
16.	Schrier SA, Bodurtha JN, Burton B, et al. The Coffin-Siris Syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012, 158A(8): 1865-1876.

1. Schrier Vergano S, Santen G, Wieczorek D, et al. Coffin-Siris Syndrome. In:Adam MP, Ardinger HH, Pagon RA, et al. , eds. GeneReviews? Internet. Seattle (WA):University of Washington, Seattle, April 4, 2013, [updatedAug12: 2021.
2. Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Child, 1970, 119(5): 433-439.
3. Moffat JJ, Jung EM, Ka M, et al. The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior. Prog Neuropsychopharmacol Biol Psychiatry. 2019, 89: 30-38.
4. Bögershausen N, Wollnik B. Mutational landscapes and phenotypic spectrum of SWI/SNF-related intellectual disability disorders. Front Mol Neurosci. 2018, 11: 252.
5. Tsurusaki Y, Okamoto N, Ohashi H, et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012, 44(4): 376-378.
6. Van der Sluijs PJ, Jansen S, Vergano SA, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019, 21(6): 1295-1307.
7. Hoyer J, Ekici AB, Endele S, et al. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012, 90(3): 565-572.
8. Takenouchi T, Yoshihashi H, Sakaguchi Y, et al. Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. Am J Med Genet A. 2016, 170(12): 3249-3252.
9. Curcio MR, Ferranti S, Lotti F, et al. Coffin-Siris syndrome and epilepsy. Neurol Sci. 2021, 42(2): 727-729.
10. Ka M, Chopra DA, Dravid SM, Kim WY. Essential roles for ARID1B in dendritic arborization and spine morphology of developing pyramidal neurons. J Neurosci. 2016, 36(9): 2723-2742.
11. Jung EM, Moffat JJ, Liu J, et al. Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. Nat Neurosci. 2017, 20(12): 1694-1707.
12. Celen C, Chuang JC, Luo X, et al. Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. Elife. 2017, 6: e25730.
13. Kosho T, Okamoto N. Coffin-Siris Syndrome international collaborators, genotype-phenotype correlation of Coffin-Siris Syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet, 2014, 166C(3): 262-275.
14. Santen GW, Aten E, Vulto-van Silfhout AT, et al. Coffin-Siris Syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013, 34(11): 1519-1528.
15. Tsurusaki Y, Okamoto N, Ohashi H, et al. Coffin-Siris Syndrome is a SWI/SNF complex disorder. Clin Genet. 2014, 85(6): 548-554.
16. Schrier SA, Bodurtha JN, Burton B, et al. The Coffin-Siris Syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012, 158A(8): 1865-1876.

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