EDA Gene Mutations Underlie Non-syndromic Oligodontia-Reference-Cited by-同舟云学术

EDA Gene Mutations Underlie Non-syndromic Oligodontia

Published:2009-02 Issue:2 Volume:88 Page:126-131
ISSN:0022-0345
Container-title:Journal of Dental Research
language:en
Short-container-title:J Dent Res

Author:

Song S.¹²³⁴⁵,Han D.¹²³⁴⁵,Qu H.¹²³⁴⁵,Gong Y.¹²³⁴⁵,Wu H.¹²³⁴⁵,Zhang X.¹²³⁴⁵,Zhong N.¹²³⁴⁵,Feng H.¹²³⁴⁵

Affiliation:

1. Department of Medical Genetics, Peking University Health Science Center, Beijing, China;

2. Department of Prosthodontics, Peking University School and Hospital of Stomatology, 22 Zhongguancun Nandajie, Haidian District, Beijing, 100081, China;

3. College of Life Sciences, Peking University, Beijing, China;

4. Peking University Center of Medical Genetics, Peking University Health Science Center, Beijing 100083, China; and

5. New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA

Abstract

Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype. We hypothesized that the EDA gene could be responsible for sporadic non-syndromic oligodontia in affected males. In this study, we examined 15 unrelated males with non-syndromic oligodontia. Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.

Publisher

SAGE Publications

Subject

General Dentistry

Link

http://journals.sagepub.com/doi/pdf/10.1177/0022034508328627

Reference21 articles.

1. Burzynski NJ, Escobar VH -1983- Classification and genetics of numeric anomalies of dentition. Birth Defects Orig Artic Ser 19:95–106.

2. Daugaard-Jensen J, Nodal M, Kjaer I -1997- Pattern of agenesis in the primary dentition: a radiographic study of 193 cases. Int J Paediatr Dent 7:3–7.

3. 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

4. Mutational Analysis of Families Affected with Molar Oligodontia

5. Congenital absence of teeth: a review with emphasis on inheritance patterns

Cited by 80 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hair Evaluation in Orthodontic Patients with Oligodontia;Diagnostics;2024-04-30

2. Eight EDA mutations in Chinese patients with tooth agenesis and genotype–phenotype analysis;Oral Diseases;2024-01-29

3. Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia;BMC Oral Health;2024-01-27

4. Novel frameshift variant of WNT10A in a Japanese patient with hypodontia;Human Genome Variation;2024-01-23

5. Whole genome sequencing in families with oligodontia;Oral Diseases;2023-12-09