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Polydactyly
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Polydactyly
Polydactyly, a condition characterized by additional fingers or toes, is one of the features
that suggests that the observations are an extension of classical transmission. Since polydactyly
is an autosomal dominant trait, an individual only needs to have one affected allele. However,
polydactyly doesn't strictly follow Mendelian principles. Instead, it shows two extensions of
Mendelian inheritance, which are variable expressivity and incomplete penetrance. Variable
expressivity means that individuals with the genetic mutation may diffusely exhibit this model
trait. Some may have an additional digit, that is, an additional finger or toe, while others may be
born with multiples of such organs in both their hands and feet (Online Mendelian Inheritance in
Man, OMIM®, n.d). Incomplete penetrance suggests that individuals with the dominant allele,
who therefore carry the gene and have polydactyly, may appear normal.
Mendelian's allelic hypotheses and the polydactyly phenomenon are similar in that an
individual will express an allele if it is present. However, in polydactyly, the dominant allele does
not necessarily result in phenotypic manifestation, and possession of the allele does not exhibit
homogeneity of phenotypic expression amongst affected individuals. This difference is typically
caused by another gene or environmental factors that help regulate the type of trait expression in
a particular human being. The condition is linked to several genes, including the GLI3 gene,
which is essential for limb creation. The GLI3 gene controls the creation of the number of fingers
and toes, resulting in polydactyly (Bubshait, 2022). Nonetheless, since the same gene is
expressed in various fashions, the social factor influenced by genetics and environment presents
different symptomology despite the same genetic mutation. The observation of a trait such as
polydactyly exemplifies the most complex patterns in genetic transmission and demonstrates that
dominants do not always follow the patterns of simple Mendelian inheritance.
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References
Bubshait, D. K. (2022). A review of polydactyly and its inheritance: Connecting the dots.
Medicine, 101(50), e32060.
Online Mendelian Inheritance in Man, OMIM®. (n.d.). Polydactyly. McKusick-Nathans Institute
of Genetic Medicine, Johns Hopkins University. Retrieved [date you accessed the page],
from [Link]
