ARID1B相关疾患

ARID1B相关疾患（ARID1B-related disorder）是一个由ARID1B基因突变所造成的疾病。其临床表现包括脸部畸型、发展迟缓、智能障碍、第五指远端指节发育不全等等^[1]。

致病机转及诊断

ARID1B (AT-rich interactive domain-containing protein 1B) 是SWI/SNF复合体中的重要组成蛋白，因此ARID1B的致病突变将会影响SWI/SNF的正常功能，包括调控基因表现、DNA转录、染色质重构等^[2]。由于SWI/SNF复合体中各组成蛋白的突变有相似的临床表现，也有学者认为应该将SWI/SNF中各蛋白（如ARID1A、SMARCA4、SMARCB1、SOX11）突变所造成的疾病统称为“SWI/SNF相关智能障碍疾病”（SWI/SNF-related intellectual disability disorders）^[3]。

目前诊断方式为临床表现和ARID1B基因检测^[1]。

临床表现

ARID1B突变所造成的影响非常广泛，常见临床表现有：智能障碍、肌张力低下、听力缺损、喂食困难、喉头软化、言语发展迟缓、动作发展迟缓、面部指节畸型等等^[4]。

有研究指出ARID1B突变是智能障碍患者胼胝体发育不全的主要原因^[5]。

预后

由于目前发现的个案数量有限，ARID1B相关疾患对预期寿命的影响仍不明确^[1]。芬兰学者Määttänen曾在2018年发表过一位69岁ARID1B相关疾患女性患者的个案报告^[6]。

参考资料

^ ^1.0 ^1.1 ^1.2 Vergano SA; van der Sluijs PJ; Santen G. Adam MP, Mirzaa GM, Pagon RA; et al , 编. ARID1B-Related Disorder. Seattle: University of Washington. 2019-05-23 [2023-07-05]. （原始内容存档于2023-03-29）.
^ Santen GW, Kriek M, van Attikum H. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.. Epigenetics. 2012 Nov, 7(11). doi:10.4161/epi.22299. 请检查|date=中的日期值 (帮助)
^ Bögershausen N, Wollnik B. Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. Front Mol Neurosci. 2018-08-03, 11:252. doi:10.3389/fnmol.
^ van der Sluijs, P.J., Jansen, S., Vergano, S.A.; et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome. Genet Med. June 2019, 21. doi:10.1038/s41436-018-0330-z.
^ Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, Faudet A, Lesne F, Bienvenu T, Alby C, Attié-Bitach T, Depienne C, Nava C, Héron D. ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. Brain. 2016-11-01,. 139(11). doi:10.1093/brain/aww181.
^ Määttänen L, Hietala M, Ignatius J, Arvio M. A 69-year-old woman with Coffin-Siris syndrome. Am J Med Genet A. 2018 Aug, 176(8). doi:10.1002/ajmg.a.38844. 请检查|date=中的日期值 (帮助)

[未命名-20231105164133-1] 1.0 ^1.1 ^1.2 Vergano SA; van der Sluijs PJ; Santen G. Adam MP, Mirzaa GM, Pagon RA; et al , 编. ARID1B-Related Disorder. Seattle: University of Washington. 2019-05-23 [2023-07-05]. （原始内容存档于2023-03-29）.

[2] Santen GW, Kriek M, van Attikum H. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.. Epigenetics. 2012 Nov, 7(11). doi:10.4161/epi.22299. 请检查|date=中的日期值 (帮助)

[3] Bögershausen N, Wollnik B. Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. Front Mol Neurosci. 2018-08-03, 11:252. doi:10.3389/fnmol.

[4] van der Sluijs, P.J., Jansen, S., Vergano, S.A.; et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome. Genet Med. June 2019, 21. doi:10.1038/s41436-018-0330-z.

[5] Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, Faudet A, Lesne F, Bienvenu T, Alby C, Attié-Bitach T, Depienne C, Nava C, Héron D. ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. Brain. 2016-11-01,. 139(11). doi:10.1093/brain/aww181.

[6] Määttänen L, Hietala M, Ignatius J, Arvio M. A 69-year-old woman with Coffin-Siris syndrome. Am J Med Genet A. 2018 Aug, 176(8). doi:10.1002/ajmg.a.38844. 请检查|date=中的日期值 (帮助)

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