The Second Deletion Mutation in Exon 8 of EDA Gene in a XLHED Pedigree

被引：9
作者：
Yin, Wei [1 ,2 ,3 ]
Ye, Xiaoqian [1 ,2 ]
Bian, Zhuan [1 ,2 ]
机构：
[1] Wuhan Univ, Sch & Hosp Stomatol, State Key Lab Breeding Base Basic Sci Stomatol Hu, Minist Educ, Wuhan 430072, Peoples R China
[2] Wuhan Univ, Sch & Hosp Stomatol, Key Lab Oral Biomed, Minist Educ, Wuhan 430072, Peoples R China
[3] Dalian Med Univ, Coll Stomatol, Dept Endodont & Periodont, Dalian, Peoples R China
来源：
DERMATOLOGY | 2013年 / 226卷 / 02期
关键词：
X-linked hypohidrotic ectodermal dysplasia; EDA gene; Deletion mutation; HYPOHIDROTIC ECTODERMAL DYSPLASIA; ECTODYSPLASIN-A; FRAMESHIFT MUTATION; KAPPA-B; FAMILIES; IDENTIFICATION; NOMENCLATURE; PROTEIN;
D O I：
10.1159/000346610
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
Background: X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by hypodontia, hypohidrosis, sparse hair and characteristic facial features and is caused by mutation in the ectodysplasin A (EDA) gene. Objective: In this study we report on a large Chinese XLHED family and investigate the molecular genetics of the defect. Methods: All individuals of the family were examined by clinical and radiographic examinations. The EDA gene was sequenced in the whole family and in 150 controls. Results: Three male patients had classic XLHED phenotype. A novel one-nucleotide deletion mutation (c.855delG) in exon 8 which caused premature termination of the polypeptide at amino acid 307 was confirmed. The mutant lost parts of the TNF domain may prevent transmission of the intracellular downstream signal. This was the second deletion mutation in exon 8 that was reported in a Chinese individual. Conclusions: Our findings suggested deletion mutations in exon 8 might be specific to the Chinese population. Copyright (c) 2013 S. Karger AG, Basel
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页码：105 / 110
页数：6
相关论文
共 31 条
[1]   The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats [J].
Bayés, M ;
Hartung, AJ ;
Ezer, S ;
Pispa, J ;
Thesleff, I ;
Srivastava, AK ;
Kere, J .
HUMAN MOLECULAR GENETICS, 1998, 7 (11) :1661-1669
[2]   Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia [J].
Chassaing, N ;
Bourthoumieu, S ;
Cosse, M ;
Calvas, P ;
Vincent, MC .
HUMAN MUTATION, 2006, 27 (03) :255-259
[3]   Dento-Craniofacial Phenotypes and underlying Molecular Mechanisms in Hypohidrotic Ectodermal Dysplasia (HED): a Review [J].
Clauss, F. ;
Maniere, M. -C. ;
Obry, F. ;
Waltmann, E. ;
Hadj-Rabia, S. ;
Bodemer, C. ;
Alembik, Y. ;
Lesot, H. ;
Schmittbuhl, M. .
JOURNAL OF DENTAL RESEARCH, 2008, 87 (12) :1089-1099
[4]   Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC:: Identification of 14 novel mutations in Italian patients [J].
Conte, Chiara ;
Gambardella, Stefano ;
Bulli, Cristina ;
Rinaldi, Fabrizio ;
Di Marino, Daniele ;
Falconi, Mattia ;
Bramanti, Placido ;
Desideri, Alessandro ;
Novelli, Giuseppe .
GENETIC TESTING, 2008, 12 (03) :437-442
[5]   EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice [J].
Cui, CY ;
Durmowicz, M ;
Tanaka, TS ;
Hartung, AJ ;
Tezuka, T ;
Hashimoto, K ;
Ko, MSH ;
Srivastava, AK ;
Schlessinger, D .
HUMAN MOLECULAR GENETICS, 2002, 11 (15) :1763-1773
[6]   Nomenclature for the description of human sequence variations [J].
den Dunnen, JT ;
Antonarakis, E .
HUMAN GENETICS, 2001, 109 (01) :121-124
[7]   Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells [J].
Ezer, S ;
Bayés, M ;
Elomaa, O ;
Schlessinger, D ;
Kere, J .
HUMAN MOLECULAR GENETICS, 1999, 8 (11) :2079-2086
[8]   Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds [J].
Fan, Huali ;
Ye, Xiaoqian ;
Shi, Lisong ;
Yin, Wei ;
Hua, Bo ;
Song, Guangtai ;
Shi, Bin ;
Bian, Zhuan .
EUROPEAN JOURNAL OF ORAL SCIENCES, 2008, 116 (05) :412-417
[9]   Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications [J].
Ferguson, BM ;
Thomas, NST ;
Munoz, F ;
Morgan, D ;
Clarke, A ;
Zonana, J .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (02) :112-115
[10]   The crystal structures of EDA-A1 and EDA-A2: Splice variants with distinct receptor specificity [J].
Hymowitz, SG ;
Compaan, DM ;
Yan, MH ;
Wallweber, HJA ;
Dixit, VM ;
Starovasnik, MA ;
de Vos, AM .
STRUCTURE, 2003, 11 (12) :1513-1520
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