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Dental genetics

Yuri A Zarate, Jennifer L Fish
The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines...
October 24, 2016: American Journal of Medical Genetics. Part A
Alejandro Iglesias-Linares, Lorri Ann Morford, James Kennedy Hartsfield
When orthodontic patients desire shorter treatment times with aesthetic results and long-term stability, it is important for the orthodontist to understand the potential limitations and problems that may arise during standard and/or technology-assisted accelerated treatment. Bone density plays an important role in facilitating orthodontic tooth movement (OTM), such that reductions in bone density can significantly increase movement velocity. Lifestyle, genetic background, environmental factors, and disease status all can influence a patients' overall health and bone density...
October 20, 2016: Current Osteoporosis Reports
Youn Hee Jee, Nadine Sowada, Thomas C Markello, Iraj Rezvani, Guntram Borck, Jeffrey Baron
Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired postnatal linear growth (height 113.3 cm, -4.6 SDS), a bone age that was delayed by 5 years, dysmorphic facies, cognitive impairment, and central nervous system anomalies. His younger brother, presented only with growth failure at 10 months of age...
October 17, 2016: Clinical Genetics
Bin Wang, Yuxi Zhou, Song Leng, Liyuan Zheng, Hong Lv, Fei Wang, Li-Hai Tan, Yimin Sun
Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, potential linkage between these two disorders has been suggested as prevalence of DD among NSCL/P patients was much higher than that in general populations. Previous neuroimaging studies observed impaired short-term memory in patients with DD and NSCL/P, respectively...
October 13, 2016: Journal of Human Genetics
Cameron L Randall, John R Shaffer, Daniel W McNeil, Richard J Crout, Robert J Weyant, Mary L Marazita
OBJECTIVES: Dental fear is a prevalent problem that impacts dental treatment-seeking behavior and thus oral, systemic, and psychological health. Among other important predictors, fear of pain has been shown to be a critical component of dental fear. While learning history (id est, past experience) is known to shape development and maintenance of dental fear and fear of pain, minimal work has addressed genetic etiological variables for these healthcare-related anxieties. With the aim of coming to a more complete conceptualization of dental fear, this study assessed the heritability of dental fear and fear of pain and elucidated the role of genetics in the relation between the constructs...
October 11, 2016: Community Dentistry and Oral Epidemiology
Rajeev K Mehlotra, Noemi B Hall, Barne Willie, Catherine M Stein, Aaron Weinberg, Peter A Zimmerman, Lance T Vernon
Polymorphisms in toll-like receptor (TLR) and β-defensin (DEFB) genes have been recognized as potential genetic factors that can influence susceptibility to and severity of periodontal diseases (PD). However, data regarding associations between these polymorphisms and PD are still scarce in North American populations, and are not available in HIV+ North American populations. In this exploratory study, we analyzed samples from HIV+ adults (n = 115), who received primary HIV care at 3 local outpatient HIV clinics and were monitored for PD status...
2016: PloS One
Amer Sehic, Amela Tulek, Cuong Khuu, Minou Nirvani, Lars Peter Sand, Tor Paaske Utheim
MicroRNAs (miRNAs) are a class of small, non-coding RNAs that provide an efficient pathway for regulation of gene expression at a post-transcriptional level. Tooth development is regulated by a complex network of cell-cell signaling during all steps of organogenesis. Most of the congenital dental defects in humans are caused by mutations in genes involved in developmental regulatory networks. Whereas the developmental morphological stages of the tooth development already are thoroughly documented, the implicated genetic network is still under investigation...
October 7, 2016: Gene
Sadie Smith, Kavita Gadhok, Dmitri Guvakov
Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant multisystem syndrome presenting with cutaneous, skeletal, dental ocular, central nervous system and soft tissue abnormalities. This case report discusses an adult male patient with Goltz syndrome that was noted to have large, papillomatous, hypopharyngeal lesions upon induction of general anesthesia. We highlight challenges with airway management intraoperatively and postoperatively in patients with Goltz syndrome. Our aim is to increase awareness of the potential airway complications associated with this genetic disorder and to provide suggestions for optimal perioperative management for patients afflicted with Goltz syndrome...
2016: Case Reports in Anesthesiology
Hayat Aynaou, Imane Skiker, Hanane Latrech
INTRODUCTION: Pycnodysostosis is a rare genetic disease characterized by osteosclerosis and bone fragility. The clinical aspects are varied including short stature, acro-osteolysis of distal phalanges, and dysplasia of the clavicles. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, a beaked nose, obtuse mandibular angle, and both maxilla and mandible are hypoplastic. Dental abnormalities are common. We report a case with the typical clinical and radiological characteristics of the Pycnodysostosis associated with a conductive hearing loss, an association rarely reported...
April 2016: Journal of Orthopaedic Case Reports
M de-Pedro-Herráez, J Mesa-Jiménez, C Fernández-de-Las-Peñas, J-L de-la-Hoz-Aizpurua
Myogenic temporomandibular disorders (MTMD) frequently coexist with other clinical conditions in the same individual. In the last decades, several authors have analyzed these comorbidities looking for the origin of this overlapping. _Objetives: The aim of this study was to perform a comparative anaylisis between a group of patients with MTMD and a control group of dental patients without dysfunctional pathology to assess whether there are significant differences in the presence of systemic medical comorbidities between the two groups...
October 1, 2016: Medicina Oral, Patología Oral y Cirugía Bucal
David A Parry, Claire E L Smith, Walid El-Sayed, James A Poulter, Roger C Shore, Clare V Logan, Chihiro Mogi, Koichi Sato, Fumikazu Okajima, Akihiro Harada, Hong Zhang, Mine Koruyucu, Figen Seymen, Jan C-C Hu, James P Simmer, Mushtaq Ahmed, Hussain Jafri, Colin A Johnson, Chris F Inglehearn, Alan J Mighell
Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the intricate regulation of ion transport and controlled changes to the pH of the developing enamel matrix. The means by which the enamel organ regulates pH during amelogenesis is largely unknown. We identified rare homozygous variants in GPR68 in three families with amelogenesis imperfecta, a genetically and phenotypically heterogeneous group of inherited conditions associated with abnormal enamel formation...
October 6, 2016: American Journal of Human Genetics
Fu Xiong, Zhisong Ji, Yanhui Liu, Yu Zhang, Lingling Hu, Qi Yang, Qinwei Qiu, Lingfeng Zhao, Dong Chen, Zhihui Tian, Xuan Shang, Leitao Zhang, Xiaofeng Wei, Cuixian Liu, Qiuxia Yu, Meichao Zhang, Jing Cheng, Jun Xiong, Dongri Li, Xiuhua Wu, Huijun Yuan, Wenqing Zhang, Xiangmin Xu
Dentin dysplasia type I (DDI) is an autosomal-dominant genetic disorder resulting from dentin defects. The molecular basis of DDI remains unclear. DDI exhibits unique characteristics with phenotypes featuring obliteration of pulp chambers and diminutive root, thus providing a useful model for understanding the genetics of tooth formation. Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p...
September 29, 2016: Human Mutation
Debra S Regier, Thomas C Hart
With the growing complexity of health care, interprofessional communication and collaboration are essential to optimize the care of dental patients, including consideration of genetics. A dental case exemplifies the challenges and benefits of an interprofessional approach to managing pediatric patients with oligodontia and a family history of colon cancer. The interprofessional team includes dental, genetic, nutritional, and surgical experts.
October 2016: Dental Clinics of North America
William Crowe, Philip J Allsopp, Gene E Watson, Pamela J Magee, J J Strain, David J Armstrong, Elizabeth Ball, Emeir M McSorley
Autoimmune diseases result from an interplay of genetic predisposition and factors which stimulate the onset of disease. Mercury (Hg), a well-established toxicant, is an environmental factor reported to be linked with autoimmunity. Hg exists in several chemical forms and is encountered by humans in dental amalgams, certain vaccines, occupational exposure, atmospheric pollution and seafood. Several studies have investigated the effect of the various forms of Hg, including elemental (Hg(0)), inorganic (iHg) and organic mercury (oHg) and their association with autoimmunity...
September 23, 2016: Autoimmunity Reviews
Marte-Mari Uhlen, Kjersti R Stenhagen, Piper M Dizak, Børge Holme, Aida Mulic, Anne B Tveit, Alexandre R Vieira
Not all individuals at risk for dental erosion (DE) display erosive lesions. The prevalence of DE is higher among male subjects. The occurrence of DE may depend on more than just acidic challenge, with genetics possibly playing a role. The aim of this study was to investigate the association of enamel-formation genes with DE. One premolar and a saliva sample were collected from 90 individuals. Prepared teeth were immersed in 0.01 M HCl (pH 2.2), and enamel loss (μm) was measured using white light interferometry...
October 2016: European Journal of Oral Sciences
Alessandro Salvi, Edoardo Giacopuzzi, Elena Bardellini, Francesca Amadori, Lia Ferrari, Giuseppina De Petro, Giuseppe Borsani, Alessandra Majorana
Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing teeth), or anodontia (lack of all teeth). Tooth agenesis may occur either in association with genetic syndromes, based on the presence of other inherited abnormalities, or as a non-syndromic trait, with both familiar and sporadic cases reported. In this study, we enrolled 16 individuals affected by tooth agenesis, prevalently hypodontia, and we carried out direct Sanger sequencing of paired box 9 (PAX9) and Msh homeobox 1 (MSX1) genes in 9 subjects...
September 19, 2016: International Journal of Molecular Medicine
Gagandeep Kaur, Kanika Mohindra, Shifali Singla
Autoimmune reactions reflect an imbalance between effector and regulatory immune responses, typically develop through stages of initiation and propagation, and often show phases of resolution (indicated by clinical remissions) and exacerbations (indicated by symptomatic flares). The fundamental underlying mechanism of autoimmunity is defective elimination and/or control of self-reactive lymphocytes. Periodontal diseases are characterized by inflammatory conditions that directly affect teeth supporting structures which are the major cause of tooth loss...
September 21, 2016: Autoimmunity Reviews
Sara Nader Marta, Roberto Yoshio Kawakami, Claudia Almeida Prado Piccino Sgavioli, Ana Eliza Correa, Guaniara D'Árk de Oliveira El Kadre, Ricardo Sandri Carvalho
Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil...
2016: Journal of Contemporary Dental Practice
Zyad M AIBarrak, Adel S Alqarni, Elna P Chalisserry, Sukumaran Anil
BACKGROUND: Papillon-Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. CASE PRESENTATION: A series of five cases of Papillon-Lefèvre syndrome among the siblings in a family is presented here: a 3-year-old Arab girl, a 4-year-old Arab boy, a 11-year-old Arab boy, a 12-year-old Arab boy, and a 14-year-old Arab boy...
2016: Journal of Medical Case Reports
Chintamaneni Raja Lakshmi, Doppalapudi Radhika, Mpv Prabhat, Sujana Mulk Bhavana, Nallamilli Sai Madhavi
Background. The aim of this study was to assess the relationship between genetic taste sensitivity, dietary preferences and salivary flow rate in 6‒14-year-old children for identification of individuals at higher risk of developing dental caries. Methods. A total of 500 children 6‒14 years of age, of both genders, who reported to the Department of Oral Medicine and Radiology, were included. Propylthiouracil (PROP) sensitivity test was carried out and the subjects whose perception was bitter were grouped as tasters, whereas those who were unable to perceive any taste were grouped as non-tasters...
2016: Journal of Dental Research, Dental Clinics, Dental Prospects
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