"Amelogenesis imperfecta"

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. Plexins are large transmembrane receptors for the semaphorin family of signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Nine plexin genes have been identified in humans, but despite the apparent importance of plexins in development, only biallelic and variants have so far been associated with Mendelian genetic disease. Eight individuals from six families presented with a recessively inherited variable clinical condition, with core features of amelogenesis imperfecta (AI) and sensorineural hearing loss (SNHL), with variable intellectual disability. Probands were investigated by exome

ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta. Amelogenesis imperfecta (AI) is a diverse group of inherited diseases featured by various presentations of enamel malformations that are caused by disturbances at different stages of enamel formation. While hypoplastic AI suggests a thickness defect of enamel resulting from aberrations during the secretory stage of amelogenesis

Full-mouth rehabilitation with lithium disilicate ceramic crowns in hypoplastic amelogenesis imperfecta: a case report and review of literature. Amelogenesis imperfecta (AI) is a group of genetic disorders characterized by tooth discoloration and enamel defects. Patients with AI always exhibit generalized attrition and defective tooth structure, leading to the loss of occlusal vertical dimension

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta. Amelogenesis imperfecta (AI) is a developmental enamel defect affecting the structure of enamel, esthetic appearance, and the tooth masticatory function. Gene mutations are reported to be relevant to AI. However, the mechanism underlying AI caused by different mutations is still unclear. This study aimed to reveal the molecular

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Collagen XVII is most typically associated with human disease when biallelic variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous

Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta. Amelogenesis imperfecta (AI) represents a group of clinically and genetically heterogeneous disorders that affect enamel formation and mineralization. Although AI is commonly considered a monogenic disorder, digenic inheritance is rarely reported. In this study, we recruited two nonconsanguineous Chinese families

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Amelogenesis imperfecta (AI) comprises a group of rare, inherited disorders with abnormal enamel formation. Ameloblastin (AMBN), the second most abundant enamel matrix protein (EMP), plays a critical role in amelogenesis. Pathogenic biallelic loss-of-function variants are known to cause recessive hypoplastic AI

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta. Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis factor (TNFR) superfamily expressed during tooth development, with unknown function. Here, we report one Brazilian and two French families with ARAI and a distinctive hypomineralized phenotype with hypoplastic enamel, post-eruptive enamel loss, and occlusal attrition. Using Next Generation Sequencing

Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4. Amelogenin plays a crucial role in tooth enamel formation, and mutations on X-chromosomal amelogenin cause X-linked amelogenesis imperfecta (AI). Amelogenin pre-messenger RNA (mRNA) is highly alternatively spliced, and during alternative splicing, exon4 is mostly skipped, leading to the formation

Specialist and transitional care provision for amelogenesis imperfecta: a UK-wide survey. Background Amelogenesis imperfecta (AI) can be challenging to manage due to the complexity and variation of presentation. Clear care pathways between general practice, specialist paediatric dentistry and adult services are required.Aim To assess the provision of specialist care and transitional care

Public and dental professionals' use of social media to discuss amelogenesis imperfecta. Amelogenesis imperfecta (AI) is an inherited disorder of enamel development that is challenging to treat and often associated with negative patient and parental outcomes. Social media provides a valuable perspective on patients' and dental professionals' experience of AI and dental care. To explore how the public and dental professionals use social media to discuss AI. A cross-sectional study involving a systemic search of eight social media platforms using the search term 'amelogenesis imperfecta'. Relevant posts were selected using predefined eligibility criteria. Word content of eligible posts was qualitatively analysed using a thematic framework approach. A total of 555 posts were identified

Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta. Amelogenesis imperfecta (AI) is an innate disorder that affects the formation and mineralization of the tooth enamel. When diagnosed with AI, one's teeth can be hypoplastic (thin enamel), hypomature (normal enamel thickness but discolored and softer than normal enamel), hypocalcified (normal enamel thickness but extremely weak), or mixed

Amelogenesis imperfecta: study suggests good outcomes from crown therapy Amelogenesis imperfecta- good outcomes from crown therapyMenu * * Take your event #BeyondTheRoom * Training * #ElfHelp * Contact us * NewsSearch National Elf Service No bias. No misinformation. No spin. Just what you need! The Dental Elf * Home * About * Categories * Cost effectivenessEvaluation and impact dentistry » Amelogenesis imperfecta: study suggests good outcomes from crown therapyAmelogenesis imperfecta: study suggests good outcomes from crown therapy12 Responses »Sep 4 2015Posted byDerek RichardsAmelogenesis imperfecta (AI) is a rare, genetically determined defect in enamel mineralization. It is classified into 4 main types with 14 subtypes being recognised. The main types are: hypoplastic (Type 1

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family. Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appears both in syndromic as well as non-syndromic forms

Alteration of Exon Definition Causes Amelogenesis Imperfecta. Amelogenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity of tooth enamel. More than 20 genes are, so far, known to be responsible for this condition. In this study, we recruited 3 Turkish families with hypomaturation AI. Whole-exome sequence analyses identified disease-causing mutations

Management of amelogenesis imperfecta in an adult patient: a short review and clinical report. Objective This clinical report aims to share with general practitioners a conservative approach to treat patients with amelogenesis imperfecta (AI).Clinical considerations In relatively young patients, a conservative treatment approach is essential in order to maintain the vitality of the teeth

FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta. Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM #130900) is a genetic disorder exhibiting severe hardness defects and reduced fracture toughness of dental enamel. While the condition is nonsyndromic, it can be associated with other craniofacial anomalies, such as malocclusions and delayed or failed

WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis. Dental enamel malformations, or amelogenesis imperfecta (AI), can be isolated or syndromic. To improve the prospects of making a successful diagnosis by genetic testing, it is important that the full range of genes and mutations that cause AI be determined. Defects in WDR72 (WD repeat-containing protein 72; OMIM *613214) cause

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta. Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnormal formation of dental enamel, either in isolation or as part of a syndrome. Heterozygous variants in laminin subunit beta 3 ( LAMB3) cause AI with dominant inheritance in the absence of other cosegregating clinical

No trails available on best restorative treatments for amelogenesis imperfecta