[Cornelia de Lange syndrome caused by SMC1A gene variation in a child]

R H Lian; B Yi; S D Zhu; L Cao; B Sun; P A Qi

doi:10.3760/cma.j.issn.0578-1310.2020.01.016

[Cornelia de Lange syndrome caused by SMC1A gene variation in a child]

Zhonghua Er Ke Za Zhi. 2020 Jan 2;58(1):60-62. doi: 10.3760/cma.j.issn.0578-1310.2020.01.016.

[Article in Chinese]

Authors

R H Lian¹, B Yi¹, S D Zhu¹, L Cao¹, B Sun², P A Qi³

Affiliations

¹ Department of Pediatrics, Gansu Provincial Maternity and Child-care Hospital, Lanzhou 730050, China.
² Department of Child Care, Gansu Provincial Maternity and Child-care Hospital, Lanzhou 730050, China.
³ Department of Ultrasound Echocardiogram, Gansu Provincial Maternity and Child-care Hospital, Lanzhou 730050, China.

PMID: 31905481
DOI: 10.3760/cma.j.issn.0578-1310.2020.01.016

Abstract

患儿女，5月龄，因"10 d内抽搐5次"住院。特殊面容，浓眉、弓形眉、连心眉，睫毛长且弯曲，小下颌，肌张力略增高，大运动和精神发育落后。头颅磁共振成像示胼胝体变薄；视频脑电图示双侧前头部异常放电；家系全外显子组检测提示患儿存在SMC1A基因NM_006306:exon4:c.607A>G（p.K203E）杂合变异所致Cornelia de Lange综合征Ⅱ型。患儿SMC1A基因检测到的杂合变异c.607A>G是新发变异，在国内未见报道，扩大了SMC1A基因变异谱。.

Publication types

Case Reports

MeSH terms

Cell Cycle Proteins / genetics*
Child
Chromosomal Proteins, Non-Histone / genetics*
De Lange Syndrome*
Humans
Phenotype
Structural Maintenance of Chromosome Protein 1

Substances

Cell Cycle Proteins
Chromosomal Proteins, Non-Histone
Structural Maintenance of Chromosome Protein 1