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Like the name of the condition implies, this condition is inherited following an autosomal dominant pattern, which means that only one copy of a certain mutation (in this case, the duplication of the LMNB1 gene) is needed for a trait or disorder to be expressed, in familial cases, offspring have a 1 in 2, or 50% chance of inheriting a copy of ...
Coffin–Siris syndrome is inherited in an autosomal dominant manner Coffin-Siris syndrome. 16-year-old boy with mutations in the ARID1B gene. Coffin–Siris syndrome ( CSS ), first described in 1970 by Dr Grange S. Coffin and Dr E. Siris, [ 1 ] [ 2 ] is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails.
Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. The mutation involves satellite DNA , which is tandemly repeated sequences of DNA that do not code for a protein.
This condition was first discovered in 1995 by Melberg et al. when they described 5 members of a 4-generation Swedish family where cerebellar ataxia and sensorineural deafness presented as an autosomal dominant trait, 4 of them had narcolepsy and 2 had diabetes mellitus. The oldest members had psychiatric symptoms, neurological anomalies, and ...
In 1981, Malleson et al. reported a family that had autosomal dominant synovitis, camptodactyly, and iridocyclitis. [8] One member died of granulomatous arteritis of the heart and aorta. In 1982, Rotenstein reported a family with granulomatous arteritis, rash, iritis , and arthritis transmitted as an autosomal dominant trait over three generations.
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3]
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. [3] [4] [5] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta.
Hutchinson-Gilford progeroid syndrome (HGPS) is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at an early age. [8] Its occurrence is usually the result of a sporadic germline mutation ; although HGPS is genetically dominant, people rarely live long enough to have children ...