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Chinese Journal of Dental Research
Chin J Dent Res 18 (2015), No. 4     3. Dec. 2015
Chin J Dent Res 18 (2015), No. 4  (03.12.2015)

Page 229-234, doi:10.3290/j.cjdr.a35147, PubMed:26629556

Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia
Zhang, Xiao Xia / Wong, Sing Wai / Han, Dong / Feng, Hai Lan
Objective: To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia.
Methods: Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia.
Results: Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother.
Conclusion: Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

Keywords: EDA, inheritance, MSX1, mutation, oligodontia