Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation of the EDA Gene：a Case Report and Literature Review

doi:10.12114/j.issn.1007-9572.2021.00.168

Abstract

Abstract: Ectoderm dysplasia is a group of rare congenital diseases that mainly affect organs originating in the ectoderm，such as nails，teeth，hair，and sweat glands，causing abnormalities in their structure and function.EDA gene is the pathogenic gene of hypohidrosis ectodermal dysplasia（HED）.Children with HED are prone to high fever，and even severe fever that can cause death.We summarized the clinical features and gene mutation characteristics of HED caused by a novel c.852T>A mutation in the EDA gene，and reviewed relevant literature to improve clinicians' awareness of this rare disease.

Key words: Ectodermal dysplasia, hypohidrotic, autosomal recessive；EDA gene；Hemizygote；Genetic variation

摘要： 外胚层发育不良是一组罕见的先天性疾病，主要累及外胚层来源的器官，如指甲、牙齿、头发和汗腺等，造成其结构及功能异常。EDA基因是少汗性外胚层发育不良（HED）的致病基因。HED患儿易发生高热，高热严重者可造成死亡。本文总结了1例EDA基因c.852T>A新发变异所致HED患儿的临床及基因突变情况，丰富了该病的基因突变谱，以增强临床对该罕见病的认识。

关键词: 外胚层发育不良症, 少汗性, 常染色体隐性；EDA 基因；半合子；遗传变异

QI Jing,PEI Yuying,LU Jun. Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation of the EDA Gene：a Case Report and Literature Review　[J]. Chinese General Practice, 2021, 24(21): 2749-2751. DOI: 10.12114/j.issn.1007-9572.2021.00.168.
祁婧,裴玉英,逯军. EDA基因新发变异致少汗性外胚层发育不良一例报道并文献复习[J]. 中国全科医学, 2021, 24(21): 2749-2751. DOI: 10.12114/j.issn.1007-9572.2021.00.168.

References

［1］THURNAM J.Two cases in which the skin，hair and teeth were very imperfectly developed［J］．Med Chir Trans，1848，31（1）：71-82．DOI：10.1177/095952874803100108.
［2］VISINONI A F，LISBOA-COSTA T，PAGNAN N A，et al．Ectodermal dysplasias：clinical and molecular review［J］．Am J Med Genet A，2009，149（9）：1980-2002．DOI：10.1002/ajmg.a.32864.PMID：19681154.
［3］WANG Y，HE J，DECKER A M，et al．Clinical outcomes of implant therapy in ectodermal dysplasia patients：a systematic review［J］．Int J Oral Maxillofac Surg，2016，45（8）：1035-1043．DOI：10.1016/j.ijom.2016.03.011.
［4］TRZECIAK W H，KOCZOROWSKI R.Molecular basis of hypohidrotic ectodermal dysplasia：an update［J］．J Appl Genet，2016，57（1）：51-61．DOI：10.1007/s13353-015-0307-4.
［5］SCHNEIDER H，FASCHINGBAUER F，SCHUEPBACH-MALLEPELL S，et al．Prenatal correction of X-linked hypohidrotic ectodermal dysplasia［J］．N Engl J Med，2018，378（17）：1604-1610．DOI：10.1056/NEJMoa1714322.
［6］ANBOUBA G M，CARMANY E P，NATOLI J L.The characterization of hypodontia，hypohidrosis，and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia：a systematic review［J］．Am J Med Genet A，2020，182（4）：831-841．DOI：10.1002/ajmg.a.61493.
［7］CA?UETO J，ZAFRA-COBO M I，CIRIA S，et al．A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia［J］．Actas Dermosifiliogr，2011，102（9）：722-725．DOI：10.1016/j.ad.2011.04.004.
［8］陈建军，杨森，宋映雪，等．X性连锁少汗性外胚层发育不良家系ED1基因突变检测［J］．中华皮肤科杂志，2003，36（10）：553-555.
CHEN J J，YANG S，SONG Y X，et al．Mutations in ED1 gene of two pedigrees with X-linked hypohidrotic ectodermal dysplasia［J］．Chinese Journal of Dermatology，2003，36（10）：553-555.
［9］TONG D X，HE S P，WANG L W，et al．Association of single-nucleotide polymorphisms in the cannabinoid receptor 2 gene with schizophrenia in the Han Chinese population［J］．J Mol Neurosci，2013，51（2）：454-460．DOI：10.1007/s12031-013-0062-0.
［10］ZHANG J，HAN D，SONG S J，et al．Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations［J］．Eur J Med Genet，2011，54（4）：e377-e382．DOI：10.1016/j.ejmg.2011.03.005.
［11］WOHLFART S，MEILLER R，HAMMERSEN J，et al．Natural history of X-linked hypohidrotic ectodermal dysplasia：a 5-year follow-up study［J］．Orphanet J Rare Dis，2020，15（1）：7．DOI：10.1186/s13023-019-1288-x.
［12］王福喜，张学军.无汗性外胚叶发育不全遗传类型及临床特点分析［J］．安徽医科大学学报，2001，36（6）：477．DOI：10.3969/j.issn.1000-1492.2001.06.033.
［13］苏冠羽，王乐滢，梁庆丰.以眼部症状首诊的少汗型外胚层发育不良一例［J］．中华眼科杂志，2019，55（10）：785-787．DOI：10.3760/cma.j.issn.0412-4081.2019.10.010.
［14］林文浩，何映谊，沈君.IKBKG基因移码突变致外胚层发育不良伴免疫缺陷一例［J］．中华儿科杂志，2019，57（8）：638-640．DOI：10.3760/cma.j.issn.0578‐1310.2019.08.014.
［15］PERMAUL P，NARLA A，HORNICK J L，et al．Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency：case report and review of outcomes［J］．Immunol Res，2009，44（1/2/3）：89-98．DOI：10.1007/s12026-008-8085-2.
［16］HUTTNER K.Future developments in XLHED treatment approaches［J］．Am J Med Genet A，2014，164（10）：2433-2436．DOI：10.1002/ajmg.a.36499.
［17］SCHNABL D，GRUNERT I，SCHMUTH M，et al．Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia：a systematic review［J］．J Oral Rehabil，2018，45（7）：555-570．DOI：10.1111/joor.12638.