Region Jnkpings ln Odontologiska Institutionen

Isolated oligodontia associated with mutations in AXIN2, MSX1, PAX9, and EDARADD

Bergendal B*, Stecksén-Blicks C, Gabriel H, Norderyd J,
Dahl N



The aim of the study was to establish the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, EDAR, and EDARADD genes in a cohort of individuals with isolated oligodontia.


The study comprised 93 probands with oligodontia, defined as congenital lack of six or more permanent teeth. Nine probands had self-reported symptoms from hair, nails, or sweat glands.


The probands were given an oral examination and interviewed. Genetic analyses were performed using denaturing gradient gel electrophoresis and DNA sequence analysis.


Mutation screening of all coding sequences of the six genes revealed sequence alterations predicted to be damaging or potentially damaging in 14 of 93 probands (15.1%). None of the probands with mutations had other self-reported ectodermal symptoms. Five individuals with a mutation had a family history of oligodontia. No distinct clinical differences in oral parameters were found when comparing individuals with and without mutations.


Genetic analyses of a Swedish cohort with oligodontia showed that 15% of the cases are associated with a mutation in the AXIN2, MSX1, PAX9, or EDARADD genes. To our knowledge, this is the first report of isolated oligodontia associated with EDARADD mutations.

Uppdaterad: 2013-04-03
Anna Thofelt, Avdelningen för odontologisk radiologi Jönköping, Folktandvården