Format

Send to

Choose Destination
Chin J Dent Res. 2015;18(4):229-34. doi: 10.3290/j.cjdr.a35147.

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.

Abstract

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.

PMID:
26629556
DOI:
10.3290/j.cjdr.a35147
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Quintessence Publishing Co., Ltd
Loading ...
Support Center