Conclusion
There are many gene mutations which would inevitably lead to a
diagnosis of Kallmann Syndrome. Kallmann Syndrome is a disease that,
predominantly, occurs in prepubescent children.
Affected children would likely experience an abbreviated puberty. In some cases, puberty is delayed, instead of
ceased or avoided. The disorder is
congenital, but symptoms may arise later than the origin of the disease. The male-to-female ratio varies between 4:1
and 5:1. The mutated gene, the KAL1
gene, encodes for a putative neural cell adhesion molecule. The mutated gene has lingering effects
throughout the maturation process and into adulthood.
Many allelic variants can lead to Kallmann Syndrome. For example, there is one at base pair 711,
it’s the substitution of Guanine to Adenine which causes a nonsense mutation,
switching Tryptophan to a premature stop codon at 237. At base pair 771,
the substitution of Cytosine to Thymine results in a nonsense mutation that
causes Argenine to switch to a premature stop codon at 257. Like the
mutation at 711, when the base pair at 774 has a substitution of Guanine to
Adenine, it causes a nonsense mutation, thus creating a premature stop codon in
place of Tryptophan at 258. The deletion of Cytosine, at base pair 831,
results in a frame shift mutation, deleting the amino acid, Proline, and
causing a premature stop codon at 277. These mutations in a DNA sequence
all result in Kallmann Syndrome.
In most cases, patients survive Kallmann Syndrome. However, even with it being a rare disease,
there are many reported deaths each year.
Since, diagnosis of the disease is fairly recent, not much progress has
been made. As scientists and doctors
continue to look for a sufficient cure, the disease’s mystique continues to
confound many renowned researchers of genetic diseases.
http://emedicine.medscape.com/article/122824-overview
http://hmg.oxfordjournals.org/content/vol18/issue1/cover.dtl
The above image is a representation of the murine prokineticin receptor,
a G protein that has seven trans-membrane domains. The murine prokineticin receptor, in people
with Kallmann Syndrome, it’s mutated by different missense mutations
demonstrated above. Each color
represents the different functional effects of each individual mutation.