血清锌正常的肠病性肢端皮炎患儿1例SLC39A4基因突变检测  

Detection of SLC39A4 Gene Mutation in a Child with Acrodermatitis Enteropathica and Normal Serum Zinc Levels

作　　者：张涵茵 张江安[1] 孙莉婷 孙钰桢 胡媛 符德爽 毛雨 于建斌[1] 刘莉娜 孔祥东[2] ZHANG Hanyin;ZHANG Jiang′an;SUN Liting;SUN Yuzhen;HU Yuan;FU Deshuang;MAO Yu;YU Jianbin;LIU Li′na;KONG Xiangdong(Department of Dermatology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Center of Genetic and Prenatal Diagnosis,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450046,China)

机构地区：[1]郑州大学第一附属医院皮肤科,河南郑州450052 [2]郑州大学第一附属医院遗传与产前诊断中心,河南郑州450046

出　　处：《中国皮肤性病学杂志》2024年第3期266-270,共5页The Chinese Journal of Dermatovenereology

摘　　要：目的报道1例血清锌正常肠病性肢端皮炎患儿及SLC39A4基因新突变位点。方法收集患儿及家系成员临床资料及外周血,检测患儿血清锌及碱性磷酸酶水平,并对家系成员进行基因测序。结果3次检测患儿血清锌水平分别为57.3、48.0和47.7μmol/L,均处于正常范围,但血清碱性磷酸酶(ALP)水平偏低(34 U/L)。基因测序发现,患儿存在SLC39A4基因c.1462_1474+1delAGACTGAGCCCAGG(p.Arg488fs)和c.296C>T(p.Ala99Val)复合杂合变异。结论该例血清锌正常的肠病性肢端皮炎患儿,SLC39A4基因中发现新的突变位点:c.296C>T(p.Ala99Val),本研究扩展了肠病性肢端皮炎的基因突变谱。Objective To report a case of acrodermatitis enteripathica with normal serum zinc levels and a novel SLC39A4 mutation site.Methods The clinical data and the blood of the patient and other members of the family was collected.The laboratory tests,including serum zinc and alkaline phosphatase levels,were completed,and the patient and some members of the family were examined by gene sequencing.Results The serum zinc levels of the patient were measured three times(57.3,48.0 and 47.7μmol/L)and were all normal.The serum alkaline phosphatase level was low(34 IU/L).Sequencing analysis of the SLC39A4 gene revealed compound heterozygous mutations c.1462_1474+1del AGACTG AGCCCAGG(p.Arg488fs)and c.296C>T(p.Ala99Val).Conclusion This patient of acrodermatitis enteripathica with normal serum zinc levels has a new mutation site c.296C>T(p.Ala99Val)in the SLC39A4 gene,extending the gene mutation spectrum of enteric acrodermatitis.

关 键 词：肠病性肢端皮炎 SLC39A4基因 基因突变 血清锌 碱性磷酸酶 

分 类 号：R751[医药卫生—皮肤病学与性病学] R591.1[医药卫生—临床医学]