Amelogenesis imperfecta: a literature review based guide to diagnosis and management

Wimalarathna, Aruna; Abeyasinghe, Udari; Jayasooriya, Primali Rukmal; Herath, Chandra

doi:10.46875/jmd.v10i3.532

Cited by 2 publications

(3 citation statements)

References 54 publications

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“…Taurodontism with large pulp chambers is observed on radiographs. Only one gene has thus far been proposed to cause this defect: DLX3 ( Wimalarathna et al, 2020 ).…”

Section: Resultsmentioning

confidence: 99%

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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Bloch-Zupan,

Rey,

Jimenez-Armijo

et al. 2023

Front. Physiol.

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Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature and serve as a basis, together with the mode of inheritance, to Witkop’s classification (Witkop, J Oral Pathol, 1988, 17, 547–553). AI can be described in isolation or associated with others symptoms in syndromes. Its occurrence was estimated to range from 1/700 to 1/14,000. More than 70 genes have currently been identified as causative.Objectives: We analyzed using next-generation sequencing (NGS) a heterogeneous cohort of AI patients in order to determine the molecular etiology of AI and to improve diagnosis and disease management.Methods: Individuals presenting with so called “isolated” or syndromic AI were enrolled and examined at the Reference Centre for Rare Oral and Dental Diseases (O-Rares) using D4/phenodent protocol (www.phenodent.org). Families gave written informed consents for both phenotyping and molecular analysis and diagnosis using a dedicated NGS panel named GenoDENT. This panel explores currently simultaneously 567 genes. The study is registered under NCT01746121 and NCT02397824 (https://clinicaltrials.gov/).Results: GenoDENT obtained a 60% diagnostic rate. We reported genetics results for 221 persons divided between 115 AI index cases and their 106 associated relatives from a total of 111 families. From this index cohort, 73% were diagnosed with non-syndromic amelogenesis imperfecta and 27% with syndromic amelogenesis imperfecta. Each individual was classified according to the AI phenotype. Type I hypoplastic AI represented 61 individuals (53%), Type II hypomature AI affected 31 individuals (27%), Type III hypomineralized AI was diagnosed in 18 individuals (16%) and Type IV hypoplastic-hypomature AI with taurodontism concerned 5 individuals (4%). We validated the genetic diagnosis, with class 4 (likely pathogenic) or class 5 (pathogenic) variants, for 81% of the cohort, and identified candidate variants (variant of uncertain significance or VUS) for 19% of index cases. Among the 151 sequenced variants, 47 are newly reported and classified as class 4 or 5. The most frequently discovered genotypes were associated with MMP20 and FAM83H for isolated AI. FAM20A and LTBP3 genes were the most frequent genes identified for syndromic AI. Patients negative to the panel were resolved with exome sequencing elucidating for example the gene involved ie ACP4 or digenic inheritance.Conclusion: NGS GenoDENT panel is a validated and cost-efficient technique offering new perspectives to understand underlying molecular mechanisms of AI. Discovering variants in genes involved in syndromic AI (CNNM4, WDR72, FAM20A … ) transformed patient overall care. Unravelling the genetic basis of AI sheds light on Witkop’s AI classification.

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“…Taurodontism with large pulp chambers is observed on radiographs. Only one gene has thus far been proposed to cause this defect: DLX3 ( Wimalarathna et al, 2020 ).…”

Section: Resultsmentioning

confidence: 99%

“…Taurodontism with large pulp chambers is observed on X-Rays. No gene has ever been implicated with this phenotype ( Wimalarathna et al, 2020 ). We suggest that types IVA and IVB might be a single subtype.…”

Section: Resultsmentioning

confidence: 99%

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Bloch-Zupan,

Rey,

Jimenez-Armijo

et al. 2023

Front. Physiol.

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“…AI may be linked to clinical dental conditions of other craniofacial abnormalities [11]. A delayed tooth eruption, an anterior open bite, pulp stones, taurodontism abnormalities are other dental conditions that may be linked to AI [12]. AI categories include genetic patterns and clinical and radiological criteria; Witkop [13] classified AI into four major types based on phenotype: hypoplastic, hypomaturation, hypocalcified and hypomaturationhypoplastic [14].…”

Section: Amelogenesis Imperfecta (Ai)mentioning

confidence: 99%

Hereditary Tooth Anomalies: Amelogenesis Imperfecta, Dentinogenesis Imperfecta, Dentine Dysplasia

El Elhaj

2024

Enamel and Dentin-Pulp Complex

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Amelogenesis imperfecta (AI), dentinogenesis imperfecta (DI), and dentin dysplasia (DD) are hereditary illnesses that affect the growth and architecture of teeth’s hard tissues (enamel and dentine). These diseases present clinical symptoms such as tooth discoloration, enamel/dentine abnormalities, and enhanced tooth sensitivity. AI is defined by teeth enamel flaws, while DI is characterized by anomalies in dentin development, leading to opalescent or yellow-brown teeth, greater translucency, and a higher risk of fractures. DD is less prevalent than AI or DI. The genetic basis of DD, DI, and AI is derived from gene alterations. Mutations in the DSPP, DMP1, COL1A1, and COL1A2 genes are linked to DI, while the DSPP, DMP1, and COL1A2 genes are the cause of DD. Family genetic history was used to detect genetic mutation and confirm diagnosis, with treatment options including endodontic therapy, restorative dentistry, and preventative treatments as in fluoride therapy and oral hygiene guidelines. Early diagnosis and effective treatment are essential for enhancing oral health and quality of life.

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Amelogenesis imperfecta: a literature review based guide to diagnosis and management

Cited by 2 publications

References 54 publications

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Hereditary Tooth Anomalies: Amelogenesis Imperfecta, Dentinogenesis Imperfecta, Dentine Dysplasia

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