Int J Stomatol

Inter J Stomatol ›› 2017, Vol. 44 ›› Issue (3): 288-293.doi: 10.7518/gjkq.2017.03.008

• Original Articles • Previous Articles     Next Articles

Mutation detection and analysis in EDA gene in four hypohidrotic ectodermal dysplasia families

Lu Shouyi1,2, Gao Qingping1, Zhang Xiaoyu3, He Fangqi1, Chen Yunjia1, Zeng Tingwen1, Yu Huimin1   

  1. 1. Dept. of Prosthodontics, Xiangya Hospital, Changsha 410008, China;
    2. Dept. of Stomatology, Weifang People’s Hospital, Weifang 261041, China;;
    3. Dept. of Pediatric Dentistry, Beijing Stomatological Hospital, Capital Medical University, Beijing 100050, China
  • Received:2016-06-22 Revised:2017-01-18 Online:2017-05-01 Published:2017-05-01
  • Supported by:
    This study was supported by Department of Science and Technology of Hunan Province—Science and Technology Program General Project (2012FJ4088).

RichHTML

6

PDF (PC)

402

Abstract: Objective Four hypohidrotic ectodermal dysplasia(HED) families were collected and analyzed the EDA gene sequence to evaluate the pathogenic mutation position, type, and provided a basis for clinical diagnosis. Methods Extract patients and their relatives’ peripheral blood of HED families, including 5 patients and 12 asymptomatic people. And another unrelated 100 people’s peripheral blood were collected as normal control. Design eight pairs of primers, polymerase chain reaction, DNA sequencing, and normal sequence alignment. Results EDA gene mutation was found in each patient of four families, respectively c.466C>T, c.663-697del, c.587-615del, c.878T>G. Heterozygous mutation was found in carriers. And there was no mutation in unrelated people. Conclusion The probands’ and patients’ disease resulted from the mutations c.466C>T, c.663-697del, c.587-615del, c.878T>G for EDA gene. The last three mutations have not been reported.

Key words: hypohidrotic ectodermal dysplasia, EDA gene, mutation

CLC Number: 

  • R780.2

TrendMD: 
[1] Kere J, Srivastava AK, Montonen O, et al. X-linked anhidrotic(hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane pro-tein[J]. Nat Genet, 1996, 13(4):409-416.
[2] Bayés M, Hartung AJ, Ezer S, et al. The anhidrotic ectodermal dysplasia gene(EDA) undergoes alterna-tive splicing and encodes ectodysplasin-A with dele-tion mutations in collagenous repeats[J]. Hum Mol Genet, 1998, 7(11):1661-1669.
[3] Ezer S, Bayés M, Elomaa O, et al. Ectodysplasin is a collagenous trimeric typeⅡmembrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells[J]. Hum Mol Genet, 1999, 8(11): 2079-2086.
[4] Srivastava AK, Pispa J, Hartung AJ, et al. The tabby phenotype is caused by mutation in a mouse homolo-gue of the EDA gene that reveals novel mouse and human exons and encodes a protein(ectodysplasin-A) with collagenous domains[J]. Proc Natl Acad Sci U S A, 1997, 94(24):13069-13074.
[5] Van Der Hout AH, Oudesluijs GG, Venema A, et al. Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia[J]. Eur J Hum Genet, 2008, 16(6):673-679.
[6] Vincent MC, Biancalana V, Ginisty D, et al. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia[J]. Eur J Hum Genet, 2001, 9 (5):355-363.
[7] Schneider P, Street SL, Gaide O, et al. Mutations leading to X-linked hypohidrotic ectodermal dysp-lasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A[J]. J Biol Chem, 2001, 276(22):18819-18827.
[8] Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ecto-dermal dysplasia mutations[J]. Am J Hum Genet, 1998, 63(2):380-389.
[9] Hashiguchi T, Yotsumoto S, Kanzaki T. Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia[J]. Exp Dermatol, 2003, 12(4):518-522.
[10] Anoop TM, Simi S, Mini PN, et al. Hypohydrotic ectodermal dysplasia[J]. J Assoc Physicians India, 2008, 56:268-270.
[1] Guo Simin,Chen Ting. Research progress on the gene family with sequence similarity 83 member H related to autosomal dominant hypocalcified amelogenesis imperfecta and its mutation [J]. Int J Stomatol, 2022, 49(5): 600-606.
[2] Qian Ying,Gong Jiaxing,Yu Mengfei,Liu Yu,Wei Dong,Zhu Ziyu,Lu Kejie,Wang Huiming. Diagnosis and treatment of ameloblastoma from molecular biology perspective [J]. Int J Stomatol, 2021, 48(5): 570-578.
[3] He Youya,Ji Tong. Research advances in SMO gene mutation in ameloblastoma [J]. Int J Stomatol, 2020, 47(1): 63-67.
[4] Li Sijie1, Xiao Xue2, Zhao Wei1. Research progress on the pathogenesis of ectodermal dysplasia syndrome [J]. Inter J Stomatol, 2017, 44(2): 244-248.
[5] Liu Min, Wang Xuxia. Rat sarcoma virus gene in oral squamous cell carcinoma [J]. Inter J Stomatol, 2015, 42(2): 237-242.
[6] Yang Bin1,2, Zhang Zhiguang1. Relationship among SH3PXD2b gene, craniofacial dysmorphology, and otitis media [J]. Inter J Stomatol, 2013, 40(6): 795-798.
[7] Sun Yingying, Lin Chongtao.. Research progress on hypophosphatasia in the oral cavity [J]. Inter J Stomatol, 2011, 38(5): 581-583.
[8] HAN Guo-dong, YUAN Rong-tao. Research progress of relationship between mitochondrial DNA mutation and head and [J]. Inter J Stomatol, 2010, 37(01): 65-65～67.
[9] LI You-wei1, GAO Ping1, MENG Xue-mei2. Advancement of the gene SH3BP2 in cherubism and its affection to osteoclasts with [J]. Inter J Stomatol, 2008, 35(5): 550-550～552，568.
[10] YANG Rong- tao, LI Zu- bing. Advances in r esear ch of the etiology and pathogenesis of fibrous dysplasia of b [J]. Inter J Stomatol, 2008, 35(4): 424-424～426.
[11] CHEN Jie, YU Dan-ni. Development of study on gene mutation related to dental plaque biofilm of Streptococcus mutans [J]. Inter J Stomatol, 2007, 34(04): 256-258.
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed   
[1] . [J]. Foreign Med Sci: Stomatol, 1999, 26(06): .
[2] . [J]. Foreign Med Sci: Stomatol, 1999, 26(06): .
[3] . [J]. Foreign Med Sci: Stomatol, 1999, 26(05): .
[4] . [J]. Foreign Med Sci: Stomatol, 1999, 26(05): .
[5] . [J]. Foreign Med Sci: Stomatol, 1999, 26(05): .
[6] . [J]. Foreign Med Sci: Stomatol, 1999, 26(04): .
[7] . [J]. Foreign Med Sci: Stomatol, 1999, 26(04): .
[8] . [J]. Foreign Med Sci: Stomatol, 1999, 26(04): .
[9] . [J]. Foreign Med Sci: Stomatol, 1999, 26(04): .
[10] . [J]. Foreign Med Sci: Stomatol, 1999, 26(04): .