Need some help to see if I answered this right 6) Given the pedigree below for a
ID: 60842 • Letter: N
Question
Need some help to see if I answered this right
Explanation / Answer
Autosomal dominant traits may involve only one organ or part of the body, the eye in congenital cataracts. It is common, however, for autosomal dominant disorders to manifest in different systems of the body in a variety of ways. This is pleiotropy - a single gene that may give rise to two or more apparently unrelated effects.
In tuberous sclerosis affected individuals can present with either learning difficulties, epilepsy, or a facial rash known as adenoma sebaceum (histologically composed of blood vessels and fibrous tissue known as angiokeratoma); some affected individuals have all features.
Recently, our conceptual understanding of the term pleiotropy has been challenged by the remarkably diverse syndromes that can result from different mutations in the same gene, for example the LMNA gene (which encodes Lamin A/C) and the X-linked Filamin A gene.
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