Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation

Overview

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Self-presentation is a fundamental aspect of social interaction, shaping both how others perceive individuals and how they view themselves. This dynamic process influences behaviors in various social settings, often leading people to adjust their appearance, speech, and demeanor to align with their desired identity. While self-presentation can be deliberate or unconscious, it plays a critical role in interpersonal relationships and self-perception.Forms of Self-PresentationSelf-presentation can...

People can go to great lengths to protect their self-image and present themselves in ways that they want others to see them. Sociologist Erving Goffman presented the idea that a person is like an actor on a stage. Calling his theory dramaturgy, Goffman believed that we use “impression management” to present ourselves to others as we hope to be perceived. Each situation is a new scene, and individuals perform different roles depending on who is present (Goffman, 1959). Think about...

Strategic self-presentation refers to individuals' intentional efforts to influence how others perceive them. This process is employed in various social and professional settings, such as job interviews, dating, politics, and legal contexts, where individuals seek to shape impressions to gain social or material advantages. While people generally present themselves in ways that align with their authentic characteristics, external factors, such as cognitive load, can hinder their ability to...

Effective self-presentation is a central component of social interaction and identity construction. It relies on the dynamic processes of defining the situation and engaging in self-disclosure. These mechanisms help individuals navigate social context expectations and manage how others perceive them, fostering mutual understanding and relationship development.Defining the SituationSocial situations are shaped by collectively understood frames—a set of widely understood rules or...