Study of Chinese X-linked Hypohidrotic Ectodermal Dysplasia Pedigrees Caused by Exon Deletion of EDA Gene.

Abstract

Abstract: Objective: To report a Chinese X-linked hypohidrotic ectodermal dysplasia pedigree and analyze genetic and phenotypic characters of this pedigree. Methods: The protocol was similar with the previous. Briefly, the pedigree was reported through the identified proband. All family members were investigated through clinical examination and pedigree analysis. The whole nucleotide sequence of EDA gene was studied by direct sequencing. Results: The pedigree was transmitted through X-linked recessive manner. Male patients in this family have characteristic features, while carriers only have mild exhibition. The whole exon 3 EDA gene was deleted in this pedigree. Conclusion: This family showed classical phenotype of XLHED and the causative mutation was exon 3 deletion.

Key words: X-linked , Hypoplastic ectodermal dysplasia, Genealogical investigation, Phenotype, EDA gene, Mutation Genotype

CLC Number:

R596

LI Xiao-jie, BIAN Zhuan, YIN Wei.. Study of Chinese X-linked Hypohidrotic Ectodermal Dysplasia Pedigrees Caused by Exon Deletion of EDA Gene.[J]. Journal of Oral Science Research, 2015, 31(3): 250-253.

References

[1] Yin W, Ye X, Shi L, et al. TP63 gene mutations in Chinese P63 syndrome patients [J]. J Dent Res, 2010, 89∶813-7
[2] Nikopensius T, Annilo T, Jagomgi T, et al. Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA) [J]. J Dent Res, 2013, 92∶507-11
[3] Yin W, Ye X, Bian Z. The second deletion mutation in exon 8 of EDA gene in an XLHED pedigree.Dermatology, 2013, 226∶105-10
[4] Kimura M, Machida J, Yamaguchi S, et al. Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4 [J]. Eur J Oral Sci, 2014, 122∶15-20
[5] Liang J, Song G, Li Q, Bian Z. Novel missense mutations in PAX9 causing oligodontia [J]. Arch Oral Biol, 2012, 57∶784-9
[6] Clauss F, Waltmann E, Barriere P, et al. Dento-maxillo-facial phenotype and implants-based oral rehabilitation in EctodermalDysplasia with WNT10A gene mutation: Report of a case and literature review. J Craniomaxillofac Surg 2014 Jan 15. [Epub ahead of print]
[7] Abdalla EM, Mostowska A, Jagodziski PP, Dwidar K, Ismail SR. A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family [J]. Arch Oral Biol, 2014, 59∶722-8
[8] Arte S, Parmanen S, Pirinen S, et al. Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations [J]. PLoS One, 2013, 8∶e73705
[9] Yin W, Ye X, Bian Z. Phenotypic findings in Chinese families with X-linked hypohydrotic ectodermal dysplasia [J]. Arch Oral Biol, 2012, 57∶1418-22
[10] Yin W, Ye X, Fan H, et al. Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers [J]. PLoS One, 2013, 8(4)∶e62203
[11] 尹伟,邓双,叶晓茜,边专.遗传异质性是无汗型外胚叶发育不全的重要特点[J].口腔医学研究,2008,24(3)∶290-3
[12] 白忠诚,尹伟,边专.X连锁隐性遗传无汗/少汗/少汗型外胚叶发育不全家系表型和基因型分析[J].口腔医学研究,2014,30(11)
[13] Mues G, Tardivel A, Willen L, et al. Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis [J]. Eur J Hum Genet, 2010, 18(1)∶19-25
[14] Li S, Li J, Cheng J, et al. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A) [J]. PLoS One, 2008, 3(6)∶e2396
[15] Fan H, Ye X, Shi L, et al. Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds [J]. Eur J Oral Sci, 2008, 116(5)∶412-7
[16] 刘佳怡,迪丽努尔·阿吉,艾孜孜·买买提,等.AXIN2基因的3个SNP位点与新疆维吾尔族先天缺牙的相关性,2014,30(2)∶140-3