毛发过多、角化过度、胼胝体异常、智力障碍和轻微异常的HHID综合征由ARID1B基因突变引起。 - Suppr

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

作者信息

Zweier Markus, Peippo Maarit M, Pöyhönen Minna, Kääriäinen Helena, Begemann Anaïs, Joset Pascal, Oneda Beatrice, Rauch Anita

机构信息

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

Mehiläinen Clinic, Vantaa, Finland.

出版信息

Am J Med Genet A. 2017 May;173(5):1440-1443. doi: 10.1002/ajmg.a.38143. Epub 2017 Mar 21.

DOI:10.1002/ajmg.a.38143

PMID:28323383

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5413807/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/660d/5413807/9c86bbc83f53/AJMG-173-1440-g001.jpg

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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.毛发过多、角化过度、胼胝体异常、智力障碍和轻微异常的HHID综合征由ARID1B基因突变引起。

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Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.胼胝体测量指标可预测患有科芬-西里斯综合征的ARID1B基因突变患者的视觉空间和神经运动功能障碍的严重程度。

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Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.回复：ARID1B突变是智力残疾患者胼胝体异常的主要遗传原因。

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.143 例患者的 ARID1B 谱：从非综合征性智力残疾到 Coffin-Siris 综合征。

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Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.三例患有报春花综合征及恒定胼胝体异常的患者中发现的新型ZBTB20从头突变

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Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.通过芯片杂交和全外显子测序鉴定三个中国 Coffin-Siris 综合征 1 家系中 ARID1B 杂合性缺失相关的新生突变

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Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue.神经系统疾病中的染色质改变及（表观）基因组拯救策略

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.143 例患者的 ARID1B 谱：从非综合征性智力残疾到 Coffin-Siris 综合征。

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The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.在危重症婴儿管理中早期使用快速全基因组测序的案例：一名患有左先天性膈疝、先天性心脏病和反复感染的婴儿中柯芬-西里斯综合征的延迟诊断

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Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.系统表型组学分析将智力障碍中突变的基因解卷积为生物学上连贯的模块。

Am J Hum Genet. 2016 Jan 7;98(1):149-64. doi: 10.1016/j.ajhg.2015.11.024.

Large-scale discovery of novel genetic causes of developmental disorders.发育障碍新遗传病因的大规模发现。

Nature. 2015 Mar 12;519(7542):223-8. doi: 10.1038/nature14135. Epub 2014 Dec 24.

The ARID1B phenotype: what we have learned so far.ARID1B 表型：我们目前所了解的情况。

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):276-89. doi: 10.1002/ajmg.c.31414. Epub 2014 Aug 28.

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.SWI/SNF 染色质重塑复合物基因 ARID1B 的突变导致 Coffin-Siris 综合征。

Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217.

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.影响 SWI/SNF 复合物组成部分的突变会导致 Coffin-Siris 综合征。

Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.ARID1B 基因（SWI/SNF-a 染色质重塑复合物的一个成员）单倍剂量不足是智力障碍的一个常见病因。

Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007.

Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype.多毛症、角化过度与智力发育迟缓综合征：表型的进一步界定

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Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.三名无亲缘关系女性出现多毛症、角化过度、胼胝体异常、智力发育迟缓及畸形特征。

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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

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