| KMT2D基因致病变异致Kabuki综合征新生儿14例病例系列报告并文献复习 |
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| 引用本文： | 陈晓青,胡黎园,王来栓,程国强,曹云,陈超,王慧君,周文浩,杨琳. KMT2D基因致病变异致Kabuki综合征新生儿14例病例系列报告并文献复习[J]. 中国循证儿科杂志, 2021, 16(2): 136-140. DOI: 10.3969/j.issn.1673-5501.2021.02.011 |
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| 作者姓名： | 陈晓青 胡黎园 王来栓 程国强 曹云 陈超 王慧君 周文浩 杨琳 |
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| 作者单位： | 复旦大学附属儿科医院 上海,201102;1 新生儿科,2 内分泌遗传代谢科,3 分子生物中心,4 共同第一作者 |
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| 基金项目： | 1 上海市2020年度“科技创新行动计划”医学创新研究专项:20Z11900600;2 申康促进市级医院临床技能与临床创新能力三年行动计划项目:SHDC2020CR6028-002 |
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| 摘 要： | 背景 Kabuki综合征(KS)是一种罕见的多发畸形综合征,主要临床表现为特殊面容、骨骼异常、智力障碍等.KMT2D基因致病变异所致KS占75％.目前KS诊断标准用于新生儿期诊断较为困难.目的 提出KMT2D基因突变所致KS在新生儿期的遗传筛查指征.设计病例系列报告.方法 回顾性分析复旦大学附属儿科医院(我院)KMT2...
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| 关 键 词： | KMT2D基因 Kabuki综合征 新生儿 |
| 收稿时间： | 2021-01-11 |
| 修稿时间： | 2021-04-14 |
14 cases of Kabuki syndrome caused by KMT2D gene mutation in neonates: A case series report and literature review |
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| CHEN Xiaoqing,HU Liyuan,WANG Laishuan,CHENG Guoqiang,CAO Yun,CHEN Chao,WANG Huijun,ZHOU Wenhao,YANG Lin. 14 cases of Kabuki syndrome caused by KMT2D gene mutation in neonates: A case series report and literature review[J]. Chinese JOurnal of Evidence Based Pediatrics, 2021, 16(2): 136-140. DOI: 10.3969/j.issn.1673-5501.2021.02.011 |
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| Authors: | CHEN Xiaoqing HU Liyuan WANG Laishuan CHENG Guoqiang CAO Yun CHEN Chao WANG Huijun ZHOU Wenhao YANG Lin |
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| Affiliation: | Children's Hospital of Fudan University, Shanghai 201102, China;1 Department of Neonatology, 2 Department of Endocrinology, Genetics and Metabolism, 3 Center of Molecular Biology, 4 Co-first author |
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| Abstract: | Background Kabuki syndrome (KS) is a rare multi-deformities syndrome with major clinical manifestations such as facial abnormalities, skeletal abnormalities and mental retardation. Seventy-five percent of KS is caused by KMT2D gene pathogenic variation. According to current diagnostic criteria of KS, it is difficult to make diagnosis of KS in the neonatal period of patients.Objective To propose the genetic screening indications of KS in neonatal period caused by KMT2D gene mutation.DesignCase series report.Methods We extracted clinical characteristics from patients, who were diagnosed with KS caused by KMT2D gene pathogenic variation in Children's Hospital of Fudan University and relevant literature reported from 2010 to 2020.Main outcome measures Mutation sites of KMT2D gene and clinical characteristics of patients in neonatal period.Results According to 455 cases of KS newborns caused by KMT2D gene mutation (14 cases from CHFU, 441 cases from literature), the neonatal genetic screening indications included dystonia, skeletal abnormalities, feeding difficulties, cardiac abnormalities, hypoglycemia and hearing abnormalities.Conclusion The phenotypic spectrum of children with KS caused by KMT2D mutation is different between neonates and children, and genetic screening indications of neonates should be established. |
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| Keywords: | KMT2D gene Kabuki syndrome Neonate |
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