Son of Sevenless-1 status in Indian family with gingival fibromatosis
Journal name: Journal of Indian Society of Periodontology
Original article title: Son of Sevenless-1 genetic status in an Indian family with nonsyndromic hereditary gingival fibromatosis
The Journal of Indian Society of Periodontology (JISP) publishes original scientific articles on periodontology (the study of supporting structures of teeth) and oral implantology. It is a bimonthly open-access journal with special issues for specific occasions.
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Nitya Kala, Harikrishnan Prasad, Premalatha Babu, Srinivasan Poovan Kirubanidhi Kennedy Babu
Journal of Indian Society of Periodontology:
(A bimonthly open-access journal)
Full text available for: Son of Sevenless-1 genetic status in an Indian family with nonsyndromic hereditary gingival fibromatosis
Year: 2020 | Doi: 10.4103/jisp.jisp_329
Copyright (license): CC BY-NC-SA
Summary of article contents:
Introduction
Hereditary gingival fibromatosis (HGF) is a rare condition characterized by the benign, noninflammatory, and gradually progressive enlargement of the gingiva. It is classified as a nondental biofilm-induced gingival disease, affecting approximately 1 in 750,000 individuals. HGF may present in isolation or be associated with syndromes, and it can be passed down through families via autosomal-dominant or autosomal-recessive inheritance. Despite numerous studies exploring its genetic underpinnings, the exact mutations responsible for HGF, particularly in the context of the SOS-1 gene, are not definitively established. The case reported here involves a 27-year-old male with a family history of gingival enlargement, who underwent clinical evaluation and genetic analysis.
Genetic Analysis of SOS-1 Mutation
The case highlights a significant attempt to investigate the role of the SOS-1 gene in HGF within an Indian family. While previous studies indicated the presence of mutations in the SOS-1 gene in other populations, this particular instance found no such mutation in the patient or his family members. Comprehensive genetic analysis was performed, revealing the absence of the insertion mutation at codon 1083 associated with HGF as reported in other demographics. This finding adds to the growing body of evidence suggesting genetic heterogeneity across different populations, positing that the mutations causing HGF may vary culturally and ethnically.
Conclusion
Despite the established recognition of HGF as a clinical condition, its pathogenesis remains partially understood. The investigation of the SOS-1 gene's involvement in the Indian family's case ultimately found no correlation with the condition, establishing this study as a pioneering effort in evaluating the genetic factors of HGF in this population. This underscores the need for further research to elucidate the definitive genetic causes of HGF, as well as the implications of genetic counseling for affected families. Overall, the findings emphasize the variability of genetic expressions of HGF and highlight the necessity of continued examination within diverse populations.
FAQ section (important questions/answers):
What is hereditary gingival fibromatosis (HGF)?
HGF is a rare condition characterized by the enlargement of the gingiva. It can be nonsyndromic or associated with other syndromes, and the exact cause remains poorly understood despite being linked to various genetic mutations.
What genetic mutation was assessed in this study?
The study assessed for mutations in the SOS-1 gene, specifically at locus 2p21–22. However, no mutations were found in the patient or his parents, indicating genetic heterogeneity in HGF.
How was the patient with HGF treated?
The patient underwent nonsurgical periodontal therapy followed by sextant-wise external bevel gingivectomy. A removable partial denture was also fabricated to replace missing anterior teeth, and the patient was asymptomatic at the six-month follow-up.
What are the clinical features of HGF?
HGF typically presents as a slow-growing, firm enlargement of the gums, which may be localized or generalized. It usually occurs after the eruption of permanent teeth and can be associated with poor oral hygiene.
What did the histopathological examination reveal in this study?
Histopathological examination showed hyperplastic parakeratinized stratified squamous epithelium and dense collagen fibers with areas of hyalinization, consistent with the diagnosis of gingival fibromatosis.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “Son of Sevenless-1 status in Indian family with gingival fibromatosis”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Mutation:
In genetics, a mutation is a change in the DNA sequence that can lead to variations in traits and diseases. In the context of hereditary gingival fibromatosis (HGF), specific mutations (like in the SOS-1 gene) have been studied to understand their role in the disease's pathogenesis. Identifying mutations can provide insights into genetic predispositions within families.
2) Family:
Family plays a crucial role in the study of hereditary conditions like HGF. Genetic traits often manifest within familial lines, making it important to assess multiple members to understand inheritance patterns. This case report outlines how the patient's family history contributed to diagnosing and exploring genetic mutations associated with HGF.
3) Indian:
The relevance of 'Indian' in this context highlights the geographic and genetic diversity in studies of hereditary conditions like HGF. Analyzing genetic mutations such as those in the SOS-1 gene within the Indian population enriches the understanding of the condition and helps determine if mutations vary by ethnicity.
4) Table:
While a table isn't explicitly discussed in the context of this document, the term could refer to tabulated data that presents findings from genetic analyses, patient history, or research results. Tables are useful in summarizing complex data, making it easier to interpret results, especially in studies with multiple subjects or variables.
5) Study (Studying):
This text describes a case study that provides insights into HGF and its genetic underpinnings. Conducting studies is vital for advancing medical knowledge, identifying disease patterns, and establishing correlations between genetic mutations and clinical conditions. Research studies form the foundation for understanding complex disorders and developing treatment options.
6) Disease:
HGF is classified as a rare genetic disease characterized by an abnormal enlargement of the gingiva. Understanding diseases requires examining their etiology, genetics, symptoms, and implications. In this case report, the disease's diagnosis, treatment, and familial patterns are core aspects analyzed to further comprehend HGF's complexities.
7) Hygiene (Hygienic):
Oral hygiene is pivotal in managing conditions like HGF. Poor hygiene can exacerbate gingival overgrowth and lead to complications like periodontitis. The case report notes that the patient maintained fair oral hygiene, highlighting its role in dental health and the need for continuous education on proper oral care to prevent recurrence.
8) Marriage:
The term marriage, specifically consanguineous marriage, relates to genetic diseases by highlighting how certain hereditary conditions may arise more frequently in populations where related individuals marry. In this case, the patient's family history indicated no consanguineous marriages, which can influence the genetic expression and diversity of disorders like HGF.
9) Surface:
In discussing the clinical features of HGF, the term surface refers to the characteristics of the gingival overgrowth observed during examination. The surface texture, color, and consistency of the tumor-like enlargement provide diagnostic clues necessary for identifying the condition and differentiating it from similar oral health issues.
10) Knowledge:
Knowledge serves as the foundation for understanding genetic diseases like HGF. It encompasses the information gathered from clinical studies, genetic findings, and family histories. Expanding knowledge through research aids in recognizing patterns, optimizing treatment approaches, and improving patient care in conditions impacted by inherited genetic factors.
11) Blood:
Blood is crucial in genetic testing, as DNA is extracted from blood samples to identify mutations in genes associated with conditions like HGF. The report emphasizes the collecting and analyzing venous blood to assess the genetic status of the patient and family members, thereby linking genetics with clinical manifestations.
12) Male:
The term male is relevant as HGF was reported in a 27-year-old male patient in this study. Gender may influence the expression and prevalence of certain genetic disorders. Documenting male involvement helps broaden understanding of how genetic conditions can present across different demographics in familial contexts.
13) Transmission:
Transmission refers to the hereditary passage of genetic traits or disorders within families. In HGF, it's noted that the condition may exhibit autosomal-dominant transmission, meaning that just one copy of the mutated gene from an affected parent can lead to the condition in offspring.
14) Inflammation:
Inflammation is a biological response that can be associated with various dental conditions, including gingival fibromatosis. While HGF is primarily a non-inflammatory condition, it can sometimes present with inflammatory components, especially when compounded by poor oral hygiene, exacerbating the clinical condition and complicating treatment.
15) Transformation (Transform, Transforming):
The term transforming in this context likely relates to transforming growth factor-β, which is involved in cellular processes such as growth and differentiation. Studies suggest that this factor can be significantly elevated in fibroblasts from HGF patients, indicating its potential role in the pathological growth associated with HGF.
16) Discussion:
Discussion in medical literature is essential for analyzing findings, comparing with existing literature, and formulating conclusions based on evidence. In this report, the discussion addresses various aspects of HGF, including genetic findings, treatment approaches, and the implications of results from the patient's case.
17) Swelling:
Swelling relates to the characteristic enlargement observed in HGF. Patients typically present with visible gingival overgrowth, which can impact oral function. Recognizing and assessing the degree of swelling is key for diagnosis and planning appropriate treatment interventions to manage the condition effectively.
18) Dressing:
In the surgical context, dressing refers to the material applied to a wound after treatment. Similarly, in the case of gingivectomy, a periodontal dressing was applied post-surgery to aid healing and protect the surgical site. Appropriate dressing is vital for successful recovery and minimizing complications after gum surgeries.
19) Bleeding:
Bleeding is a critical term in oral health, especially concerning surgical procedures. The case report emphasizes the importance of monitoring bleeding upon probing and during surgeries for managing HGF. Understanding bleeding patterns informs clinicians during treatment planning and helps mitigate surgical risks.
20) Nature:
The nature of HGF refers to its benign, non-inflammatory characteristics. Understanding these intrinsic properties is essential for appropriate diagnosis and treatment. The article discusses how recognizing the nature of the disease helps differentiate it from other gingival overgrowth conditions that present differently.
21) Arrow:
Arrow likely refers to visual aids in the report, such as figures that highlight certain features or complications in imaging or histological examinations. Utilizing arrows helps guide readers’ attention to crucial areas and facilitates understanding of the discussed findings in a clinical context.
22) Coral:
Coral in this context describes the color of the gingival swelling. The coral pink hue of the overgrowth signifies the tissue's nature in contrast to surrounding healthy gingiva. Such color observations are crucial during clinical examinations as they can indicate underlying health conditions and tissue viability.
23) Miṇi (Mini):
Mini could refer to the DNA mini kit used for DNA extraction mentioned in this study. This size denotes the efficiency and portability of modern laboratory tools that are essential in genetic analysis. The utilization of such kits facilitates streamlined processes in clinical genetics for accurate assessments.
24) Road:
Road may reference the road traffic accident the patient experienced, resulting in the loss of anterior teeth. This backdrop highlights the practicality of comprehensive patient histories in clinical settings, as trauma and other factors can complicate or inform the management of concurrent conditions like HGF.
25) Pur:
Poor, particularly in relation to oral hygiene, underscores a significant factor in worsening the condition of patients with HGF. The case emphasizes the importance of maintaining good dental hygiene to avoid additional complications and the necessity for patient education on effective oral care practices.
Other Science Concepts:
Discover the significance of concepts within the article: ‘Son of Sevenless-1 status in Indian family with gingival fibromatosis’. Further sources in the context of Science might help you critically compare this page with similair documents:
Clinical diagnosis, Oral Examination, Histopathological examination, Consanguineous marriage, Cohort Study, Oral hygiene practice, Genetic Analysis, Autosomal dominant inheritance, Familial pattern, Gingival enlargement, Periodontal dressing, Nonsurgical periodontal therapy.