Facial asymmetry and clinical manifestations in patients with novel insertion of the<i>TCOF1</i>gene

Ph, Su; Yf, Liu; Yu, Jae Su; Chen, Jy; Sj, Chen; Lai, Yue‐Yun

doi:10.1111/j.1399-0004.2011.01765.x

Cited by 7 publications

(6 citation statements)

References 33 publications

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“…From a cohort of 169 patients, Estelle Lopez et al found MYT1 mutation in a sporadic case by whole exon sequencing and detected one heterozygous missense mutation in another patient (Lopez et al, 2016). Other genes related to HM included SALL1, BAPX1, TCOF1, and EFTUD2 (Fischer et al, 2006;Kosaki et al, 2007;Su et al, 2012;Dai et al, 2016;Rengasamy Venugopalan et al, 2017). Here, we present the genetic studies of a family with autosomal dominant HM and demonstrate the role of the EDN-PLC-DLX5/6 regulatory cascade in HM.…”

Section: Introductionmentioning

confidence: 56%

ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum

et al. 2021

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Hemifacial microsomia (HM) is a craniofacial congenital defect involving the first and second branchial arch, mainly characterized by ocular, ear, maxilla-zygoma complex, mandible, and facial nerve malformation. HM follows autosomal dominant inheritance. Whole-exome sequencing of a family revealed a missense mutation in a highly conserved domain of ITPR1. ITPR1 is a calcium ion channel. By studying ITPR1’s expression pattern, we found that ITPR1 participated in craniofacial development, especially the organs that corresponded to the phenotype of HM. In zebrafish, itpr1b, which is homologous to human ITPR1, is closely related to craniofacial bone formation. The knocking down of itpr1b in zebrafish could lead to a remarkable decrease in craniofacial skeleton formation. qRT-PCR suggested that knockdown of itpr1b could increase the expression of plcb4 while decreasing the mRNA level of Dlx5/6. Our findings highlighted ITPR1’s role in craniofacial formation for the first time and suggested that ITPR1 mutation contributes to human HM.

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Section: Introductionmentioning

confidence: 56%

ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum

et al. 2021

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“…At the molecular level, a number of genes and factors have been associated with asymmetric growth, identified in models of severe asymmetry associated with such syndromes as hemifacial microsomia, craniosynostosis and craniofacial clefts [19]. While genes, like Msx1, Goosecoid, TWIST, and TCOF1 have been linked to a number of craniofacial syndromes, no single gene has been identified as the sole cause of the skeletal abnormalities [20-23]. It is possible that a number of genes found within similar chromosomal loci are involved in these syndromes due to compromise during the embryonic period.…”

Section: Discussionmentioning

confidence: 99%

Quantification of skeletal asymmetries in normal adolescents: cone-beam computed tomography analysis

Sanders¹,

Chandhoke

Uribe

et al. 2014

Prog Orthod.

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BackgroundThe detection and quantification of skeletal asymmetries is a fundamental component to diagnosis and treatment planning in orthodontics. The purpose of this study was to identify and quantify the characteristics of facial and dental asymmetries in a normal, adolescent population using 3D imaging.MethodsThirty consecutive Class I patients (mean age 14.32 years, SD 1.67) meeting the inclusion criteria were analyzed by three-dimensional cone-beam computed tomography (CBCT). Dental, maxillary, mandibular, and cranial base variables were measured with Dolphin 3D. CBCT analysis consisted of the localization of 34 anatomical landmarks. All reference points were digitized in 3D and analyzed using 67 skeletal and dental measurements. Student's t tests for paired samples were used with a significance level of p < 0.05.ResultsMinor right-left discrepancies were noted in all planes. The most anterior point of the glenoid fossa and most condylar points were positioned more superior and lateral on the right side, compared to the left side. Porion was also located more superiorly on the right side relative to the left side. The posterior nasal spine was found to be located to the right of the midsagittal plane. Slight dental midline discrepancies were found, and the dental arch lengths were slightly longer on the left side compared to the right. The height of the ramus, in both 3D and 2D, and the inclination of the ramus were greater on the right than that on the left side.ConclusionsThe findings of this study suggest minor asymmetries exist and are likely a common occurrence in the normal human craniofacial complex. Additionally, a natural compensatory mechanism may exist which controls the size and shape of specific tissues in order to maintain functional symmetry.

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“…Asymmetry of bite force was found only in dolichofacial subjects, with a higher bite force exerted on the left side []. Moreover, the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies was studied; the mutant treacle probably exhibited defects in nuclear trafficking and appeared to affect the development of the left side of the face (6/6 cases) more than the right side of the face (0/6) []. Although these results may be related to our findings, the reason why facial asymmetry and internal derangement are observed more frequently on the left side than on the right side could not be elucidated.…”

Section: Discussionmentioning

confidence: 65%

Factors related to the prevalence of anterior disc displacement without reduction and bony changes of the temporomandibular joint in patients with facial asymmetry

Ooi

Inoue

Minowa

et al. 2012

Oral Science International

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a b s t r a c tPurpose: The aim of the study was to determine the factors related to the prevalence of anterior disc displacement without reduction (ADDwoR) and bony changes of the mandibular condyle (bony changes) in temporomandibular joints (TMJs) of patients with dentofacial deformity exhibiting facial asymmetry. Patients and methods: A total of 75 female patients (150 joints) with facial asymmetry, who had undergone orthognathic surgery, were examined with magnetic resonance imaging (MRI) of the TMJ and cephalometric analysis. Logistic regression analysis was performed to determine whether there was a statistically significant association between age, cephalometric measurements, and prevalence of ADDwoR and bony changes. Results: Facial asymmetry, the prevalence of ADDwoR, and bony changes were more frequently found on the left side than that of the right side. Unilateral ADDwoR (n = 28) and unilateral bony changes (n = 14) were only found on the deviated side. The difference between the distance of upper incisal midpoints and lower incisal midpoints from the facial midline (U1-L1 distance) was significantly larger in 36 patients with ADDwoR and 52 patients with bony changes. According to logistic regression analysis, U1-L1 distance might be related to the prevalence of ADDwoR and bony changes in the TMJs with facial asymmetry. Conclusion: U1-L1 distance related to the prevalence of ADDwoR and bony changes in TMJs of patients with dentofacial deformity exhibiting facial asymmetry.

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Facial asymmetry and clinical manifestations in patients with novel insertion of theTCOF1gene

Cited by 7 publications

References 33 publications

ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum

ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum

Quantification of skeletal asymmetries in normal adolescents: cone-beam computed tomography analysis

Factors related to the prevalence of anterior disc displacement without reduction and bony changes of the temporomandibular joint in patients with facial asymmetry

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