DOI: 10.3290/j.cjdr.a35147, PubMed-ID: 26629556Seiten: 229-234, Sprache: EnglischZhang, Xiao Xia / Wong, Sing Wai / Han, Dong / Feng, Hai LanObjective: 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.
Schlagwörter: EDA, inheritance, MSX1, mutation, oligodontia