A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.
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.
Huang
Changzheng
C
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.
Yang
Qinbo
Q
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.
Ke
Tie
T
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.
Wang
Haisheng
H
Institute of Forensic Science and Technology, Bureau of Hubei Public Security, Wuhan, Hubei, 430070, China.
Wang
Xu
X
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.
Shen
Jiqun
J
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.
Tu
Xin
X
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.
Tian
Jin
J
Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022, China.
Liu
Jing Yu
JY
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.
Wang
Qing K
QK
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.
Liu
Mugen
M
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.
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
C506018:EDA protein, human; D053331:Ectodysplasins