Achrondoplasia

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Imagine living in a world where everything is super-sized. Imagine having to step on a stool to crawl into bed, or having to climb onto a shelf to be able to reach a light switch. Most of all, imagine having to look up to your much taller younger sister when she speaks to you. Situations like these are what Ivy Broadhead, a teenager with achondroplasia, have to go through everyday.

Ivy was born with achondroplasia, the most common form of dwarfism. It is caused by the presence of two mutant alleles in the fibroblast growth factor receptor-3 (FGFR3). It is a substitution, to be precise, at nucleotide number 1138 in the DNA. This substitution on the DNA level results in a minute change on the protein level. This change in the protein impairs the function of the FGFR3 receptor. It is not currently known how this change produces the features of achondroplasia, but scientists are working on it.

Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...

... middle of paper ...

...asia." University of Virginia Health System. 6 Nov. 2007. University of Virginia. 03 Feb. 2008

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Anonymous (4). "Zoey." Zoey's Story- Achondroplasia. 27 Sept. 2007. 3 Feb. 2008 .

Broadhead, Ivy. "Living with Achondroplasia." ChronicleLive. 4 Aug. 2005. The Evening Chronicle. 3 Feb. 2008 .

Francomano, Clair A. "Achondroplasia." Gene Reviews. 9 Jan. 2006. 02 Feb. 2008 .

Nicholson, Linda. "Genetic Counseling." Kids Health. Apr. 2007. 3 Feb. 2008 .

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