Bigoni, S;
Neri, M;
Scotton, C;
Farina, R;
Sabatelli, P;
Jiang, C;
Zhang, J;
... Ferlini, A; + view all
(2019)
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Frontiers in Genetics
, 9
, Article 723. 10.3389/fgene.2018.00723.
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Abstract
Only a few genes involved in teeth development and morphology are known to be responsible for tooth abnormalities in Mendelian-inherited diseases. We studied an inbred family of Pakistani origin in which two first-cousin born brothers are affected by early tooth loss with peculiar teeth abnormalities characterized by the absence of cementum formation. Whole exome sequencing revealed a H2665L homozygous sequence variant in the VCAN gene. Dominant splicing mutations in VCAN are known to cause Wagner syndrome or vitreoretinopathy. We explored teeth morphology in these two patients, while versican expression was assessed by western blot analysis. Early signs of vitreoretinopathy were found in the elder brother while the parents were completely negative. Our findings suggest that the homozygous recessive H2665L missense sequence variant impairs the normal morphology of the teeth roots via loss of cementum synthesis, and is also associated with early onset, recessive, Wagner syndrome, thus expanding both the phenotype mutation scenario and the inheritance mode of VCAN mutations.
| Type: | Article |
|---|---|
| Title: | Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fgene.2018.00723 |
| Publisher version: | https://doi.org/10.3389/fgene.2018.00723 |
| Language: | English |
| Additional information: | Copyright © 2019 Bigoni, Neri, Scotton, Farina, Sabatelli, Jiang, Zhang, Falzarano, Rossi, Ognibene, Selvatici, Gualandi, Bosshardt, Perri, Campa, Brancati, Salvatore, De Stefano, Taruscio, Trombelli, Fang and Ferlini. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (http://creativecommons.org/licenses/by/4.0/). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Keywords: | versican, human, periodontium, dental cementum, Wagner syndrome |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10117428 |
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