Coffin-siris综合征1例并文献复习

doi:10.3969/j.issn.1004-583X.2022.01.011

摘要/Abstract

摘要：

目的探讨Coffin-siris综合征(CSS)患儿的临床特征和基因特点。方法收集2018年2月至 2019年2月在中山大学附属第六医院儿科确诊的1例CSS患儿的临床表现、实验室检查及基因检测等临床资料,并以“Coffin-siris综合征”、“ARID1B”、“Coffin-siris syndrome”为关键词,对中国知网、万方数据知识服务平台及PubMed 2010年1月至2019年11月收录的论文进行检索。总结CSS患儿的临床表现及基因特点。结果 CSS患儿具有独特的面部特征,特定的骨骼四肢畸形,发育和认知迟缓,智力障碍,听力及言语障碍等。ARID1B基因突变,几乎都是自身新发突变,致病变异体几乎都是截断的。本例患儿检测到ARID1B基因杂合变异c.2248C>T (p.R750*), 为无义突变,其父母没有携带这个变异,提示突变属于自身新发突变。结论 CSS主要是由ARID1B基因变异导致,几乎为自身新发突变,尚未发现明显的基因型-表型相关。本例患儿ARID1B 基因杂合变异c.2248C>T (p.R750*),属于自身新发突变,国内未见相关基因报道,可以丰富我国CSS的基因突变谱。

关键词: Coffin-siris综合征, ARID1B基因, 密码子,无义

Abstract:

Objective To investigate the clinical and genetic characteristics of child sufferer with Coffin-siris syndrome(CSS). Methods The clinical features, laboratory tests and genetic tests of a case of CSS diagnosed in the Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat-sen University from February 2018 to February 2019 were collected. The “CSS”, “ARID1B” and “CSS” were selected as key words, the papers collected by China National Knowledge Infrastructure, Knowledge Service Platform of Wanfang Data and PubMed from January 2010 to November 2019 were retrieved. Clinical features and genetic characteristics of children with CSS were summarized. Results The child sufferer with CSS demonstrated unique facial features, specific skeleton & limb deformities, developmental retardation and cognitive delay, mental retardation, hearing and speech disorder, etc. The mutations of ARID1B genes were almost new mutations, and pathogenic variants were almost cut off. The heterozygous mutation of ARID1B gene c.2248C>T (p.R750*) was detected in the child sufferer, and it was an nonsense mutation. The parents did not carry such mutation, indicating that the mutation was a new mutation. Conclusion CSS is mainly caused by the mutation of ARID1B gene, it is almost new mutation, and no significant genotype-phenotype correlation is found. The heterozygous mutation of ARID1B gene c.2248C>T (p.R750*) in this case is classified to be autologous new mutation, no related gene is reported in China, and the gene mutation spectrum of CSS in China is supported to be enriched.

Key words: Coffin-Siris syndrome, ARID1B gene, codon,nonsense

中图分类号:

R722.11

罗顺昌, 李思涛, 蔡尧, 石聪聪, 肖昕, 郝虎. Coffin-siris综合征1例并文献复习[J]. 临床荟萃, 2022, 37(1): 57-61.

Luo Shunchang, Li Sitao, Cai Yao, Shi Congcong, Xiao Xin, Hao Hu. Coffin-siris syndrome: A case literature review[J]. Clinical Focus, 2022, 37(1): 57-61.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2022.01.011

https://huicui.hebmu.edu.cn/CN/Y2022/V37/I1/57

图/表 4

参考文献 31

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项目	例数	百分数(%)	本病例
头面部特征
头皮毛发的异常	156	73	+
长睫毛	169	79	-
浓眉	142	73	+
多毛症	136	64	-
上睑下垂	136	64	-
薄薄的上唇	129	61	+
厚厚的下唇	136	64	+
大嘴巴	135	63	+
鼻异常	113	53	+
腭裂	90	42	-
高腭弓	88	41	-
骨骼四肢特征
发育不全的第五个手指或脚趾	144	68	-
发育不良的第5指甲或脚趾甲	113	53	-
突出的指间关节	109	51	-
突出的远端指骨	103	48	-
脊柱侧凸	126	59	-
漏斗胸	106	50	+
牙列异常	106	50	+
神经系统与发育
听力障碍	123	58	-
视力障碍	110	52	-
张力减退	127	60	+
癫痫发作	144	68	-
胼胝体异常	117	55	-
发育迟缓	130	61	+
言语障碍	142	67	+
其他
频繁感染	79	37	-
吸吮/喂养困难	20	9	+

项目	例数	百分数(%)	本病例
头面部特征
头皮毛发的异常	156	73	+
长睫毛	169	79	-
浓眉	142	73	+
多毛症	136	64	-
上睑下垂	136	64	-
薄薄的上唇	129	61	+
厚厚的下唇	136	64	+
大嘴巴	135	63	+
鼻异常	113	53	+
腭裂	90	42	-
高腭弓	88	41	-
骨骼四肢特征
发育不全的第五个手指或脚趾	144	68	-
发育不良的第5指甲或脚趾甲	113	53	-
突出的指间关节	109	51	-
突出的远端指骨	103	48	-
脊柱侧凸	126	59	-
漏斗胸	106	50	+
牙列异常	106	50	+
神经系统与发育
听力障碍	123	58	-
视力障碍	110	52	-
张力减退	127	60	+
癫痫发作	144	68	-
胼胝体异常	117	55	-
发育迟缓	130	61	+
言语障碍	142	67	+
其他
频繁感染	79	37	-
吸吮/喂养困难	20	9	+