Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Bipolar disorder is a chronic mental health condition marked by significant mood fluctuations, including episodes of mania and depression. Elevated energy levels, heightened mood or irritability, impulsive behavior, reduced sleep needs, rapid speech, racing thoughts, inflated self-esteem, and distractibility characterize mania. Individuals with bipolar disorder often alternate between depressive and manic states, with periods of emotional stability lasting an average of six months to a year.

Overview

Bulimia nervosa is a complex and severe eating disorder characterized by a cyclical pattern of binge-and-purge eating pattern. It generally involves an episode of binge eating, followed by compensatory behaviors such as vomiting, excessive exercise, laxative use, or fasting, to prevent weight gain. Despite often maintaining a normal weight, individuals with bulimia are intensely preoccupied with their body image and harbor an overwhelming fear of gaining weight. This can contribute to the...

Overview

Borderline Personality Disorder is a complex and multifaceted mental health condition characterized by pervasive instability in interpersonal relationships, self-image, emotions, and impulse control. This instability manifests in extreme emotional reactions, fear of abandonment, and self-destructive behaviors. The disorder significantly impacts daily functioning, often leading to distress in both personal and professional domains.
Genetic and Environmental Contributions
Borderline Personality...