AHDC1基因突变致Xia-Gibbs综合征1例报告并文献复习

Xia-Gibbs Syndrome Caused by AHDC1 Gene Mutation:a case Reportand Literature Review

Xia-Gibbs综合征是由AHDC1基因突变所致神经系统疾病.该文报道1例AHDC1基因突变致Xia-Gibbs综合征患儿,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.患儿女,2岁8个月,以全面发育迟缓、面容特殊、宽额、眼距过宽、上斜眼、耳位低、双侧足外翻、膝过伸、双侧肌张力过低为主要表现.头颅MRI提示额叶小、额部脑沟裂增宽、两侧脑室前角饱满、胼胝体薄.GESELL发育诊断量表提示智商重度低下.全外显子检测发现AHDC1基因新发杂合突变c.2136delC(p.V712fs),确诊为Xia-Gibbs综合征.检索数据库,检出中文文献3篇、英文文献21篇,合并该患儿共51例Xia-Gibbs综合征.患者均有发育落后,常见症状为特殊面貌、肌张力低下、共济失调、癫痫、孤独症.基因突变位点与临床表型的关系仍有待进一步研究.

Xia-Gibbs syndrome is a neurological disease caused by AHDC1 gene mutation.This paper reports a case of Xia–Gibbs syndrome caused by AHDC1 gene mutation,and analyzes the clinical manifestations and gene mutation char acteristics of Xia-Gibbs syndrome in combination with the literature.Female child,2 years and 8 months,The main clinical manifestations include overall growth retardation,special face,wide forehead,too wide eye distance,upper squint,low ear position,bilateral foot valgus,knee hyperextension and bilateral hypotonia.Cranial IRI showed small frontal lobe,widened frontal sulcus,full anterior horn of both ventricles and thin corpus callosum.Gesell developmental seale indicates severe low IQ.A new heterozygous mutation of AHDC1 gene(c.2136delC)was found by whole exon detection.The child was diagnosed as Xia Gibbs syndrome.Search the database and find out 3 Chinese documents and 21 English documents.There were 51 patients,the common symptoms were special features,low muscle tone,ataxia,epilepsy and autism.The relationship between gene mutation sites and clinical phenotype needs further study.