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Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)
Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA) gene. The mut...
Autores principales: | , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Public Library of Science
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2405930/ https://www.ncbi.nlm.nih.gov/pubmed/18545687 http://dx.doi.org/10.1371/journal.pone.0002396 |
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author | Li, Shufeng Li, Jiahuang Cheng, Jian Zhou, Bingrong Tong, Xin Dong, Xiangbai Wang, Zixing Hu, Qingang Chen, Meng Hua, Zi-Chun |
author_facet | Li, Shufeng Li, Jiahuang Cheng, Jian Zhou, Bingrong Tong, Xin Dong, Xiangbai Wang, Zixing Hu, Qingang Chen, Meng Hua, Zi-Chun |
author_sort | Li, Shufeng |
collection | PubMed |
description | Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA) gene. The mutation of c.947A>G caused the D316G substitution of the EDA protein. The mutation of c.1013C>T found in the other family resulted in the Thr to Met mutation at position 338 of EDA. The EDA gene has been reported responsible for X-linked hypohidrotic ectodermal dysplasia (XLHED) in humans characterized by impaired development of hair, eccrine sweat glands, and teeth. In contrast, all the affected individuals in the two families that we studied here had normal hair and skin. Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers. Our results indicate that these novel missense mutations in EDA are associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level. |
format | Text |
id | pubmed-2405930 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-24059302008-06-11 Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A) Li, Shufeng Li, Jiahuang Cheng, Jian Zhou, Bingrong Tong, Xin Dong, Xiangbai Wang, Zixing Hu, Qingang Chen, Meng Hua, Zi-Chun PLoS One Research Article Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA) gene. The mutation of c.947A>G caused the D316G substitution of the EDA protein. The mutation of c.1013C>T found in the other family resulted in the Thr to Met mutation at position 338 of EDA. The EDA gene has been reported responsible for X-linked hypohidrotic ectodermal dysplasia (XLHED) in humans characterized by impaired development of hair, eccrine sweat glands, and teeth. In contrast, all the affected individuals in the two families that we studied here had normal hair and skin. Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers. Our results indicate that these novel missense mutations in EDA are associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level. Public Library of Science 2008-06-11 /pmc/articles/PMC2405930/ /pubmed/18545687 http://dx.doi.org/10.1371/journal.pone.0002396 Text en Li et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Li, Shufeng Li, Jiahuang Cheng, Jian Zhou, Bingrong Tong, Xin Dong, Xiangbai Wang, Zixing Hu, Qingang Chen, Meng Hua, Zi-Chun Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A) |
title | Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A) |
title_full | Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A) |
title_fullStr | Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A) |
title_full_unstemmed | Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A) |
title_short | Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A) |
title_sort | non-syndromic tooth agenesis in two chinese families associated with novel missense mutations in the tnf domain of eda (ectodysplasin a) |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2405930/ https://www.ncbi.nlm.nih.gov/pubmed/18545687 http://dx.doi.org/10.1371/journal.pone.0002396 |
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