肠病性肢端皮炎SLC39A4基因突变

A Study of SLC39A4 Gene Mutation in Acrodermatitis Enteropathica

目的 研究1例散发肠病性肢端皮炎(acrodermatitis enteropathica,AE)患者及其家系的SLC39A4基因突变情况,为完善该病的发病机制和产前咨询提供生物学依据。方法 收集AE患者及其家系成员的临床资料和外周血,采用PCR技术对SLC39A4基因编码区及其侧翼进行扩增,并进行DNA测序。结果 该患者SLC39A4基因发现c.948delC的纯合核苷酸变异,该变异导致从第317号氨基酸Val开始的氨基酸合成发生改变,并在改变后的第32个氨基酸终止,为移码突变。该患者的父亲和母亲均发现c.948delC杂合突变,其弟弟及与该家系无血缘关系的100例正常对照均未发现此突变。结论 SLC39A4基因c.948delC纯合突变是导致该AE患者发病的机制。此突变之前未有报道,有助于了解AE基因型与表现型的关系。

Objective To identify the pathogenic mutations of the SLC39A4 gene in a patient with sporadic acrodermatitis enteropathica(AE)and his family,thereby to improve the understanding of the pathogenesis of AE and provide the genetic information for prenatal consultation.Methods The clinical data and peripheral venous blood samples were collected from the proband and his family members.The whole coding region of the SLC39A4 gene and flanking sequences were amplified by PCR,then Sanger sequencing was performed.Results A novel homozygous frameshift mutation c.948delC was identified,which resulted in a change in amino acid synthesis starting from amino acid Val 317 and terminating at the 32nd amino acid after alteration.The parents of the proband were both found to carry the heterozygous c.948delC mutation,while this mutation was not detected in his younger brother and other 100 unrelated healthy controls.Conclusion The c.948delC homozygous mutation of SLC39A4 gene is the causative mutation in this AE patient.This novel mutation has not been reported before,and this contribution helps to understand the genotype-phenotype correlation in AE.