Li Cui-Yun, Xu Ying, Yao Ru-En, Yu Ying, Chen Xue-Ting, Li Wei, Zeng Hui, Chen Li-Ting
Department of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Jul 15;27(7):854-858. doi: 10.7499/j.issn.1008-8830.2502003.
This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a "pathogenic variant". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.
本文报道了一名因19p13.3罕见微缺失导致的心皮肤综合征（CFCS）患儿，并进行了文献综述。该患儿面容异常、身材矮小、智力和运动发育迟缓、巨头畸形及心脏异常。全外显子测序确定患儿19p13.3区域存在一个1040 kb的杂合缺失，被评为“致病变异”。这是我国首例报道的由功能丧失性突变导致的CFCS病例，丰富了CFCS的基因型特征。加强对儿童CFCS的认识势在必行。应基于其临床表现进行早期识别，并进行基因检测以助于诊断。
