Abstract
Nonsyndromic cleft lip and or without cleft palate (NSCL/P) with the hypodontia is a common developmental abnormality in humans and animals. This study identified the genetic aberration involved in both NSCL/P and hypodontia pathogenesis. A cross-sectional study using genome-wide study copy number variation-targeted CytoScan 750K array carried out on salivary samples from 61 NSCL/P and 20 noncleft with and without hypodontia Malay subjects aged 7–13 years old. Copy number variations (CNVs) of SKI and fragile histidine triad (FHIT) were identified in NSCL/P and noncleft children using quantitative polymerase chain reaction (qPCR) as a validation analysis. Copy number calculated (CNC) for each gene determined with Applied Biosystems CopyCaller Software v2.0. The six significant CNVs included gains (12q14.3, 15q26.3, 1p36.32, and 1p36.33) and losses (3p14.2 and 4q13.2) in NSCL/P with hypodontia patients compared with the NSCL/P only. The genes located in these regions encoded LEMD3, IGF1R, TP73, SKI, FHIT, and UGT2β15. There were a significant gain and loss of both SKI and FHIT copy number in NSCL/P with hypodontia compared with the noncleft group (p < 0.05). The results supported that CNVs significantly furnish to the development of NSCL/P with hypodontia.
Highlights
Tooth agenesis (TA) is one of the most common developmental abnormalities in humans, described by the failure to develop one or more teeth (Ritwik and Patterson, 2018)
A total of 81 subjects were recruited in this study, including 61 NSCL/P patients and 20 noncleft subjects
LUCLP (34%) was the most common cleft type followed by bilateral cleft lip and palate (BCLP) (21.0%), RUCLP (16.0%), left cleft lip (14.0%), and right cleft lip (13.0%)
Summary
Tooth agenesis (TA) is one of the most common developmental abnormalities in humans, described by the failure to develop one or more teeth (Ritwik and Patterson, 2018). A tooth development requires a complex process involving interaction between epithelial and mesenchymal signals, assisted by communication between signaling molecules and genetic pathways (Jussila and Thesleff, 2012). Various factors, such as those from wingless-related integration sites (Wnt), fibroblast growth factor (Fgf), bone morphogenic protein (BMP), and hedgehog (Hh) families, participate in the signaling mesenchymal interaction in tooth growth (Al-Ani et al, 2017). Alteration within one or more signaling pathways attributed to environmental influences (smoking, alcohol intake, chemotherapy, trauma, radiotherapy, and infection) or genetic factors could lead to abnormal tooth development (Rakhshan, 2015; Al-Ani et al, 2017)
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