ABCC9基因突变致Cantu综合征1例  

One case of Cantu syndrome caused by ABCC9 gene mutation

作　　者：王莹[1] 李艺佩 王义[1] Wang Ying;Li Yipei;Wang Yi(Department of Intensive Care Medicine,Xi’an Children’s Hospital,Xi’an 710003,China)

机构地区：[1]西安市儿童医院儿童重症医学科,西安710003

出　　处：《国际遗传学杂志》2024年第4期325-330,共6页International Journal of Genetics

摘　　要：目的探讨1例Cantu综合征患儿的临床特征及遗传学特征,提高临床医生对于该疾病的认识。方法回顾性分析1例Cantu综合征患儿的临床资料,应用全外显子基因测序对患儿及父母行基因变异情况检测,进行致病性分析。结果本例Cantu综合征患儿有特征性的先天性多毛症、面部特征粗糙、心脏异常,骨骼异常表现,全外显子基因检测示患儿携带ABCC9基因NM_020297.4:c.3347G>A杂合变异,患儿父母均未携带该变异,ACMG评级为致病。结论ABCC9基因NM_020297.4:c.3347G>A为Cantu综合征的致病性突变,并回顾性总结了Cantu综合征的临床表型,进一步提高临床医师对于该疾病的认识。ObjectiveTo explore the clinical characteristics and gene mutations of a child with Cantu syndrome,so as to improve the understanding of the disease.MethodsRetrospective analysis of the clinical data of a child with Cantu syndrome,using whole exome sequencing to detect gene mutations in the patient and family,and conducting pathogenic analysis.ResultsThe patient with Cantu syndrome was characterized by congenital hirsuism,rough facial features,heart abnormalities,and skeletal abnormalities.Genitic tests showed that the child had a heterozygous mutation of ABCC9 gene NM_020297.4:c.3347G>A,which was rated as pathogenic by ACMG.The proband’s parents did not h-ave this variant,which meant the child had a de novo mutation.Conclusion ABCC9 gene NM_020297.4:c.3347G>A is the pathogenic mutation forcantu syndrome.This case report has retrospectively summarized the clinical phenotype of Cantu syndrome,which can further improve the understanding of the disease.

关 键 词：Cantu综合征 儿童 多毛性骨软骨发育不良 ABCC9基因突变 

分 类 号：R725.9[医药卫生—儿科]