Bigoni, Stefania; Neri, Marcella; Scotton, Chiara; Farina, Roberto; Sabatelli, Patrizia; Jiang, Chongyi; Zhang, Jianguo; Falzarano, Maria Sofia; Rossi, Rachele; Ognibene, Davide; Selvatici, Rita; Gualandi, Francesca; Bosshardt, Dieter; Perri, Paolo; Campa, Claudio; Brancati, Francesco; Salvatore, Marco; De Stefano, Maria Chiara; Taruscio, Domenica; Trombelli, Leonardo; ... (2019). Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family. Frontiers in genetics, 9, p. 723. Frontiers Media SA 10.3389/fgene.2018.00723
|
Text
fgene-09-00723.pdf - Published Version Available under License Creative Commons: Attribution (CC-BY). Download (3MB) | Preview |
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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > School of Dental Medicine > Department of Periodontology 04 Faculty of Medicine > School of Dental Medicine > Department of Oral Surgery and Stomatology 04 Faculty of Medicine > School of Dental Medicine > Periodontics Research 04 Faculty of Medicine > School of Dental Medicine > Oral Surgery Research |
UniBE Contributor: |
Bosshardt, Dieter |
Subjects: |
600 Technology > 610 Medicine & health 600 Technology |
ISSN: |
1664-8021 |
Publisher: |
Frontiers Media SA |
Language: |
English |
Submitter: |
Caroline Balz |
Date Deposited: |
20 Jan 2020 11:28 |
Last Modified: |
05 Dec 2022 15:34 |
Publisher DOI: |
10.3389/fgene.2018.00723 |
PubMed ID: |
30740127 |
Uncontrolled Keywords: |
Wagner syndrome dental cementum human periodontium versican |
BORIS DOI: |
10.7892/boris.137665 |
URI: |
https://boris.unibe.ch/id/eprint/137665 |
Actions (login required)
 |
Edit item |