On Wednesday, 22 June 2022, J.W.P. Potuijt will defend his PhD dissertation, entitled: ‘The Triphalangeal Thumb Enigma. A phenotypical approach for enhancer identification in limb development’.
- Promotor
- Co-promotor
- Co-promotor
- Date
- Wednesday 22 Jun 2022, 13:00 - 14:30
- Type
- PhD defence
- Space
- Professor Andries Querido room
- Building
- Education Center
- Location
- Erasmus MC
Dissertation in short:
Triphalangeal thumb (TPT) is a congenital upper limb anomaly where the thumb consists of two phalanges instead of one. As triphalangeal thumb is mainly an inherited malformation in an autosomal dominant trait, it is often present in affected families. In these families, TPT is generally caused by variations in a regulatory element of the embryonic gene Sonic Hedgehog (SHH). This regulatory element, termed the ZPA-regulatory sequence (ZRS), regulates SHH expression during limb development and is therefore responsible for the patterning of the digit number and types. In the course of time however, several phenotypic observations that do not comply with current concepts of TPT have been made in the large TPT cohort we see at our outpatient clinic, requiring further research. Additionally, in some families with TPT phenotypes, no variations in the ZRS were found and required further genetic diagnostics. Therefore, the general aim of this thesis was to investigate these different phenotypical and genetic questions regarding triphalangeal thumb and polydactyly.
- More information
The public defence will begin exactly at 13.00 hrs. The doors will be closed once the public defence starts, latecomers can access the hall via the fourth floor. Due to the solemn nature of the ceremony, we recommend that you do not take children under the age of 6 to the first part of the ceremony.
A live stream link has been provided to the candidate.
