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Achondroplasia (cont.)

How is achondroplasia inherited?

Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. The gene for achondroplasia is fully penetrant, meaning that everyone who possesses it has achondroplasia. No one with the gene escapes achondroplasia. However, there is some variation in expression of the gene, meaning that children with achondroplasia are not carbon copies of each other, although they may look alike to the untutored eye.

In only about an eighth of cases is the gene inherited from a parent who has achondroplasia. Conversely, about seven-eighths of cases are due to a new mutation (a new change in the gene). This means that most cases of achondroplasia occur sporadically (out of the blue) and are the result of a new mutation in a sperm or ovum of one of the normal- appearing parents. The chance of a new mutation rises with the age of the father. As early as 1912 it was noted that sporadic (new) cases were more often last-born than first-born children. This fits with the fact that the chance of an achondroplastic birth has been shown to increase with paternal age (age of the father).

What if someone with achondroplasia has children?

Although most children with achondroplasia do not have an achondroplastic parent but have a new mutant gene for achondroplasia, they can still transmit the gene to their children. No matter whether a person with achondroplasia carries a new or an "old" gene, the risk for passing that gene down to a child is 50%. It is 50% with each pregnancy, irrespective of the outcome of prior pregnancies. It is like flipping a coin each time.

What if two people with achondroplasia have children?

People with achondroplasia sometimes have children together. If so, each parent has a 50:50 chance of passing on the gene. Thus, with each conception, there is a 25% chance for an average-size child, a 50% chance for a child (like them) with achondroplasia and a 25% chance for a conception with two achondroplasia genes. The combined presence of two genes for achondroplasia (called homozygous achondroplasia) causes a grievous skeletal disorder that leads to early death from breathing failure due to constriction by a tiny chest cage and neurologic problems from hydrocephalus.

Homozygous achondroplasia, although fatal, has led to insights into other medical conditions. For example, similarities were noticed between homozygous achondroplasia and a condition called thanatophoric dwarfism. It was proposed that the two disorders might be due to different mutations in the same gene and this has proven to be the case. Another skeletal disorder called hypochondroplasia has also turned out to be due to yet another mutation (change) in the same gene. Achondroplasia, thanatophoric dwarfism, and hypochondroplasia are thus due to mutational changes at the same gene locus.

What gene causes achondroplasia?

The locus of the gene for achondroplasia (which is also the locus of the genes for thanatophoric dwarfism and hypochondroplasia) has been mapped. Linkage studies were done of families with achondroplasia tracing the transmission of DNA markers whose chromosomal locations were known. These studies revealed that the gene for achondroplasia was on the short (p) arm of chromosome 4 in chromosome band 4p16.3.



Next: What is the molecular story with achondroplasia? »


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