中国循证儿科杂志2025，Vol.20Issue(3)：235-237,3.DOI:10.3969/j.issn.1673-5501.2025.03.013
CDK13基因错义突变致CHDFIDD 1例病例报告
CHDFIDD caused by CDK13 gene mutation:A case report
摘要
Abstract
We reported a child diagnosed with congenital heart defect,facial dysmorphism,and intellectual developmental disorder(CHDFIDD),also known as cyclin-dependent kinase 13(CDK13)-related disorder,from Heart Center,Children's Hospital of Fudan University.The girl of 3 years and 10 months was admitted for"more than three-year's history of atrial septal defect(ASD)accompanied by developmental delay".Physical examination revealed distinctive facial features(microcephaly,telecanthus,short palpebral fissure with upward slanting).Echocardiography revealed a secundum ASD measuring 15.3 mm by 17.3 mm.The Gesell Developmental Scales assessment indicated"global developmental delay".Trio whole exome sequencing revealed a novel missense mutation in the CDK13 gene(c.2149G＞A,p.Gly717Arg).The patient successfully underwent transthoracic closure of ASD with satisfactory postoperative recovery and is currently under long-term follow-up observation.关键词
CHDFIDD/CDK13/CDK13相关疾病/先天性心脏病/发育迟缓Key words
CHDFIDD/CDK13/CDK13-related disorder/Congenital heart disease/Developmental delay引用本文复制引用
王佳钰,张佳玲,王凤,陈纲,陈伟呈,石奇琪,桂永浩,储晨..CDK13基因错义突变致CHDFIDD 1例病例报告[J].中国循证儿科杂志,2025,20(3):235-237,3.基金项目
复旦大学双一流建设学科重点项目(儿童早期健康与维护平台建设):XM06221237 （儿童早期健康与维护平台建设）
上海市高水平地方高校建设项目,一流临床医学学科建设项目(儿童发育与健康) （儿童发育与健康）
