AHDC1基因突变致Xia-Gibbs综合征1例报告并文献复习

Xia-Gibbs syndrome in a child caused by a de novo AHDC 1 mutation and literature review

目的探讨AHDC1基因突变致Xia-Gibbs综合征的临床表现、基因变异特点。方法回顾分析2018年12月接诊的1例AHDC1基因突变致Xia-Gibbs综合征患儿的临床资料,并结合文献分析Xia-Gibbs综合征患儿的临床表现、基因突变特点。结果男性患儿,5岁7月,以全面发育落后、面容特殊,耳位低,拇指内收为主要表现;头颅CT示双侧小脑半球后外方脑外间隙增宽、蛛网膜囊肿。学龄前儿童韦克斯勒氏智能测试提示智商重度低下。全外显子检测发现AHDC1基因新发剪切突变c.3185_c.3186 delCA,导致蛋白编码提前终止(p.T 1062 Sfs*63),确诊为Xia-Gibbs综合征。检索万方数据库,检出中文文献1篇;检索PubMed及Medline,检出英文文献16篇;合并该患儿共35例Xia-Gibbs综合征患儿,其中34例为AHDC1基因新发突变,1例为包含AHDC1基因在内的染色体微缺失所致。结论Xia-Gibbs综合征是由AHDC1基因新发突变所致神经系统疾病,其突变位点及临床表现的特异性目前尚无定论,二者的相关性有待进一步研究。

Objective To investigate the phenotypic and molecular spectrum of Xia-Gibbs syndrome with AHDC1 mutation.Methods Clinical data,genetic test results of a child with Xia-Gibbs syndrome caused by AHDC1 gene mutation admitted to the Children's Hospital Affiliated to Chongqing Medical University on December 12,2018 were retrospectively analyzed.The clinical manifestations,gene mutation characteristics and their relationships were analyzed in combination with literature.Results The patient was a 5-year and 7-month old boy with low-set ears,facial dysmorphism,and global developmental delay.Whole-exon sequencing revealed a de novo mutation in AHDC1(c.3185_c.3186delCA).The domestic and foreign literatures were reviewed and summarized.Up to December 20,2018,one Chinese document in Wanfang database and 16 English articles in PubMed and Medline were retrieved with Xia-Gibbs syndrome and AHDC1 as the key words.A total of 35 cases of XGS children were reported caused by de novo mutations in AHDC1 gene,among them,one case was caused by a chromosome microdeletion including AHDC1.Conclusion Xia-Gibbs syndrome is a neurological disease caused by de novo mutation in the AHDC1 gene.Further studies are needed to determine the relationship between mutation site and clinical manifestation of Xia-Gibbs syndrome.