Anticipation (genetics)

About: Anticipation (genetics) is a research topic. Over the lifetime, 669 publications have been published within this topic receiving 21784 citations. The topic is also known as: Genetic Anticipation & Anticipation, Genetic.

Analysis of a variable number tandem repeat polymorphism in the huntingtin interacting protein-1 related gene for anticipation in bipolar affective disorder.

Abstract: The anticipation phenomenon, described as either an increase in disease severity, a decrease in age at onset, or both, in successive generations, has been suggested as a possibility of genetic transmission for bipolar affective disorder. We report here investigation of the stability of intergenerational transmission of a variable number tandem repeat (VNTR) polymorphism, found in the Huntingtin interacting protein-1 related gene (HIP12/HIP1R) that is mapped to the chromosome 12q24.31 region, in nine pedigrees showing decreased age at onset in successive generations. We did not observe any allelic instability but we report a deletion that includes this VNTR polymorphism. Allelic and genotypic association studies should be undertaken to verify the involvement of HIP12/HIP1R in bipolar disorder.

Autoimmune Polyglandular Syndromes

Abstract: The autoimmune polyglandular syndromes (APS) are clusters of endocrine abnormalities that occur in discreet patterns in subjects with immune dysregulation and that permit treatment and anticipation of associated systemic or other hormonal deficiencies. Three major entities are recognized, APS1, APS2 and APS3; the rare X-linked syndrome of immunodysregulation, polyendocrinopathy, and enteropathy due to mutations in the FOXP3 gene also qualifies as an APS. An additional increasingly described category occurs in patients treated with immunoregulatory agents such as checkpoint inhibitors for cancer, so that tumor antigens that have evaded recognition can now be targeted, but at the expense of activating autoimmunity. APS1 is a syndrome characterized by chronic muco-cutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency, as well as ectodermal dystrophy and a host of other endocrine and non-endocrine tissue involvement in autoimmune destructive processes. The underlying cause is a homozygous inactivating mutation in the autoimmune regulator gene AIRE which permits the intra-thymic expression of ectopic antigens normally expressed only in specific peripheral tissues (e.g., insulin), so that T-cells as they mature within the thymus and acquire a receptor for the self- antigen are eliminated (negative selection), thereby avoiding autoimmunity. Recent studies demonstrate that in addition to the classical homozygous mutations, single gene dominant mutations in AIRE play an important role in autoimmune regulation and its disorders. APS2 and APS3 are both due to mutations in the HLA DQ/DR regions which regulate antigen presentation to T-cell receptors; however, their genetic profile is more complex. APS2 is characterized by type 1 diabetes mellitus (T1DM), Addison Disease, and Hypothyroidism, whereas APS3 is similar but without Addison disease. In keeping with other autoimmune disorders, these entities are more frequent in females, whereas APS1 has no sexual predominance. The recent emergence of autoimmune endocrinopathies in patients treated with immunoregulatory agents for cancer adds a new dimension to considerations of autoimmune polyendocrinopathy syndromes. Rapid progress in the immunology and genetics of these entities offers the promise of potential amelioration and eventual reversal via genetic manipulation before organ damage is established. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG .

Anticipation in migraine with affective psychosis

Abstract: Anticipation is the term given to the apparent occurrence of an inherited disorder at a progressively earlier age of onset in successive generations. A family of a mother and two children, a 17-year-old girl and a 13-year-old boy, all experienced migraine with affective psychosis. There is a strong genetic predisposition to the psychiatric disorder of affective psychosis along with a dominant pattern of migraine in the family, which suggests a genetic connection between migraine and affective psychosis.