Molecular basis of unilateral condylar hyperplasia?

J.W. Nolte, M. Alders, L.H.E. Karssemakers, A.G. Becking, R.C.M. Hennekam

Research output: Contribution to JournalArticleAcademicpeer-review

Abstract

Unilateral condylar hyperplasia (UCH) causes progressive asymmetry of the mandible. The aetiology of this growth disorder is unknown. A two-centre prospective study was established, and 10 consecutive adult UCH patients scheduled for high condylectomy were included. The resected condylar tissue was divided into two parts, one for regular histopathology and one for DNA extraction. A panel of eight selected overgrowth genes (AKT1, AKT3, MTOR, PIK3CA, PIK3R2, PTEN, TSC1, TSC2) were sequenced using next-generation sequencing, with coverage of a minimum 500 times in order to be able to detect low-grade mosaicisms. Subsequently, untargeted whole exome sequencing (WES) was performed to detect variants in other genes present in three or more patients. No mutation was detected in any of the overgrowth genes, and untargeted exome sequencing failed to detect any definitively causative variant in any other gene. Ten genes had a rare variant in three or more patients, but these cannot be designated as causative without additional functional studies. The hypothesis that the cause in at least some patients with UCH is a somatic mutation in a gene that controls cell growth could not be confirmed in this study.

Original languageEnglish
Pages (from-to)1397-1401
Number of pages5
JournalInternational Journal of Oral and Maxillofacial Surgery
Volume49
Issue number11
DOIs
Publication statusPublished - Nov 2020

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