Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10

A girl with a unilateral cleft lip, alveolus and palate, tooth agenesis, and mild dysmorphic features, without a specific underlying syndrome diagnosis, was genotypically characterized and phenotypically described. Cleft gene panel analysis, single-nucleotide polymorphism (SNP) array, whole genome sequencing (WGS), whole exome sequencing, and quantitative PCR (Q-PCR) analysis were used as diagnostic tests. SNP array revealed a maternal deletion at 16q24.1, encompassing the cleft candidate gene USP10. WES revealed an additional de novo Loss-of-Function variant (p.(Asn838fs)) in the Zinc-Finger-Homeobox-4 (ZFHX4) gene. Q-PCR was performed to explore the effect of the ZFHX4 variant and the deletion in 16q24.1. The mRNA expression of a selection of putative target genes involved in orofacial clefting showed a lowered expression of USP10 (52%), CRISPLD2 (31%), and CRISPLD1 (1%) compared to the control. IRF6 showed no difference in gene expression. This case supports ZFHX4 as a novel cleft gene and suggests USP10 may contribute to the etiology of orofacial clefts in humans.     

Different Undercut Depths Influence on Fatigue Behavior and Retentive Force of Removable Partial Denture Clasp Materials: A Systematic Review

Purpose

To perform a systematic review that provides an overview of the current literature on fatigue behavior of removable partial denture (RPD) clasp materials based on different retentive areas.

Materials and methods

The review followed the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines. Electronic searches were done via PubMed, Scopus, and OVID for studies reporting on RPD clasps and the fatigue failure of clasp materials. Inclusion criteria were English language with full text and in vitro studies only. Exclusion criteria were studies that did not assess the fatigue of RPD clasp materials. A quality assessment and selection of full-text articles were performed according to Consolidated Standards of Reporting Trials criteria.

Results

A total of 182 articles were initially identified and screened. After applying inclusion and exclusion criteria, 15 articles were selected for the final analysis. Seven of the included studies utilized a vertical insertion/removal testing approach. Ten studies used the constant deflection test. Three studies used untapered specimens, and 12 studies used tapered specimens. Ten studies performed post-test analysis.

Conclusions

Cobalt-chromium (CoCr) is the strongest material in terms of fatigue in relation to the undercut depth and the modern, digitally manufactured RPD clasp materials also exhibit comparable fatigue behavior. Recent RPD clasp materials such as polyetheretherketone (PEEK) or laser sintered CoCr, however, require further study in terms of their fatigue behavior. In order to improve the quality of future studies, a standardized and calibrated fatigue testing method is needed with standardized specimen size and shape, which will reduce the risk of bias and enable meta-analysis for bulk comparison between studies.