title: A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.
abstract: Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA gene, which encodes ectodysplasin-A, are responsible for X-linked HED (XLHED). In the present study, we identified a Chinese Han family with XLHED. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of EDA identified a novel de novo mutation, c.573_574insT, in two affected males and one carrier female. Restriction fragment length polymorphism (RFLP) analysis showed that the mutation was not present in 200 controls. The 1-bp insertion mutation resulted in a frameshift, which causes premature termination of EDA polypeptide and truncation of the EDA protein. These results suggest that the c.573_574insT mutation of the EDA gene is a cause for XLHED in the family. To the best of our knowledge, this is the first de novo insertion mutation of EDA described for XLHED.
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.|Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022, China.
authors.forename: Changzheng
authors.initials: C
authors.lastname: Huang
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.|College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.
authors.forename: Qinbo
authors.initials: Q
authors.lastname: Yang
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.|College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.
authors.forename: Tie
authors.initials: T
authors.lastname: Ke
authors.affiliation: Institute of Forensic Science and Technology, Bureau of Hubei Public Security, Wuhan, Hubei, 430070, China.
authors.forename: Haisheng
authors.initials: H
authors.lastname: Wang
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.|College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Wang
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.|College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.
authors.forename: Jiqun
authors.initials: J
authors.lastname: Shen
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.|College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Tu
authors.affiliation: Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Tian
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.|College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.
authors.forename: Jing Yu
authors.initials: JY
authors.lastname: Liu
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China. qkwang@mail.hust.edu.cn.|College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China. qkwang@mail.hust.edu.cn.|Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA. qkwang@mail.hust.edu.cn.
authors.forename: Qing K
authors.initials: QK
authors.lastname: Wang
authors.affiliation: Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China. lium@mail.hust.edu.cn.|College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China. lium@mail.hust.edu.cn.
authors.forename: Mugen
authors.initials: M
authors.lastname: Liu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins