Gene Mutation Analysis and Prenatal Diagnosis for Chinese People from a Pedigree with X-linked Hypohidrotic Ectodermal Dysplasia
Jiaxing Maternity and Children Health Care Hospital/the Affiliated Women and Children's Hospital of Jiaxing University,Jiaxing 314050,China
*Corresponding author:JIN Yuxia,Chief physician;E-mail:jyx0805@163.com
JIN Yuxia,LI Suping,LI Jing, et al. Gene Mutation Analysis and Prenatal Diagnosis for Chinese People from a Pedigree with X-linked Hypohidrotic Ectodermal Dysplasia [J]. Chinese General Practice, 2021, 24(6): 740-743. DOI: 10.12114/j.issn.1007-9572.2020.00.606.
金玉霞,李素萍,李晶等. X-连锁少汗型外胚层发育不良家系的基因突变分析及产前诊断[J]. 中国全科医学, 2021, 24(6): 740-743. DOI: 10.12114/j.issn.1007-9572.2020.00.606.
[1]MIKKOLA M L.Molecular aspects of hypohidrotic ectodermal dysplasia[J].Am J Med Genet A,2009,149A(9):2031-2036.DOI:10.1002/ajmg.a.32855.
[2]HAN Y,WANG X,ZHENG L,et al.Pathogenic EDA mutations in Chinese Han families with hypohidrotic ectodermal dysplasia and genotype-phenotype:a correlation analysis[J].Front Genet,2020,11:21.DOI:10.3389/fgene.2020.00021.
[3]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.
[4]FETE M,HERMANN J,BEHRENS J,et al.X-linked hypohidrotic ectodermal dysplasia(XLHED):clinical and diagnostic insights from an international patient registry[J].Am J Med Genet A,2014,164A(10):2437-2442.DOI:10.1002/ajmg.a.36436.
[5]REYES-REALI J,MENDOZA-RAMOS M I,GARRIDO-GUERRERO E,et al.Hypohidrotic ectodermal dysplasia:clinical and molecular review[J].Int J Dermatol,2018,57(8):965-972.DOI:10.1111/ijd.14048.
[6]HAMMERSEN J,WOHLFART S,GOECKE T W,et al.Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography[J].Prenat Diagn,2019,39(9):796-805.DOI:10.1002/pd.5384.
[7]SALAS-ALANIS J C,WOZNIAK E,MEIN C A,et al.Mutations in EDA and EDAR genes in a large Mexican Hispanic cohort with hypohidrotic ectodermal dysplasia[J].Ann Dermatol,2015,27(4):474-477.DOI:10.5021/ad.2015.27.4.474.
[8]CLUZEAU C,HADJ-RABIA S,JAMBOU M,et al.Only four genes(EDA1,EDAR,EDARADD,and WNT10A)account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases[J].Hum Mutat,2011,32(1):70-72.DOI:10.1002/humu.21384.
[9]LIU G,WANG X,QIN M,et al.A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia[J].Oral Dis,2018,24(6):1101-1106.DOI:10.1111/odi.12874.
[10] GACZKOWSKA A,ABDALLA E M,DOWIDAR K M L,et al.De novo EDA mutations:variable expression in two Egyptian families[J].Arch Oral Biol,2016,68:21-28.
[11] ZINGLER P,SARCHEN V,GLATTER,et al.Palmitoylation is required for TNF-R1 signaling[J].Cell Commun Signal,2019,17(1):90.DOI:10.1186/s12964-019-0405-8.
[12] ZENG B,XIAO X,LI S,et al.Eight mutations of three genes(EDA,EDAR,and WNT10A)identified in seven hypohidrotic ectodermal dysplasia patients[J].Genes(Basel),2016,7(9):65.DOI:10.3390/genes7090065.
[13] CHEN N,WANG J.Wnt/β-catenin signaling and obesity[J].Front Physiol,2018,9:792.DOI:10.3389/fphys.2018.00792.