Mutation detection and prenatal diagnosis of XLHED pedigree

PeerJ

article

Yao Lin¹  Wei Yin¹  Zhuan Bian¹ 

[1] The State Key Laboratory Breeding Base of Basic Science of Stomatology ,(Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, Wuhan University;Department of Endodontics, Xiamen Stomatology Hospital

关键词: Prenatal diagnosis;    EDA gene;    Methylation analysis;    X-linked hypohidrotic ectodermal dysplasia;    Mutation;   

DOI  :  10.7717/peerj.3691

学科分类：社会科学、人文和艺术（综合）

来源: Inra

【 摘 要 】

BackgroundThe phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin (EDA) is the causative gene of XLHED.MethodsThe current study reported a large Chinese XLHED pedigree. The genomic DNA of adult and fetus was extracted from peripheral blood and shed chorion cell respectively. The nucleotide variation in EDA gene was screened through direct sequencing the coding sequence. The methylation state of EDA gene’s promoter was evaluated by pyrosequencing.ResultsThis Chinese XLHED family had two male patients and three carriers. All of them were with a novel EDA frameshift mutation. The mutation, c.172-173insGG, which leads to an immediate premature stop codon in exon one caused severe structural changes of EDA. Prenatal diagnosis suggested that the fetus was a female carrier. The follow-up observation of this child indicated that she had mild hypodontia of deciduous teeth at age six. The methylation level of EDA gene’s promoter was not related to carriers’ phenotype changes in this family.DiscussionWe reported a new frameshift mutation of EDA gene in a Chinese family. Prenatal diagnosis can help to predict the disease status of the fetus.

【 授权许可】

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