Acute intermittent porphyria

Inheritance

How is acute intermittent porphyria inherited?

Acute intermittent porphyria (AIP) is inherited in an autosomal dominant manner. This means that AIP happens in people who have a mutation/change in one of the two copies of the gene called HMBS that causes AIP when it does not work.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
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What does it mean to have inherited a variant in the gene for acute intermittent porphyria?

Is acute intermittent porphyria always inherited from a parent with the condition?

Can a person have 2 mutations in the gene that causes acute intermittent porphyria?

Are there genotype-phenotype correlations in acute intermittent porphyria?

Are there any founder mutations that cause acute intermittent porphyria?

What does it mean to have inherited a variant in the gene for acute intermittent porphyria?

All of our genes have many changes that do not cause any problems. Sometimes, though, a change in a gene can cause a disease. Having a variant in the gene that causes acute intermittent porphyria means that there is a change in that gene, but we cannot tell if it causes the disease or if it is a normal variant that does not cause disease.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
Is acute intermittent porphyria always inherited from a parent with the condition?

Acute intermittent porphyria (AIP) can be inherited from a parent who has the condition, or it can be new in a child. If the mutation in the HMBS gene causing AIP happen for the first time in a child, it is known as a de novo change. In fact, about 1% of people with AIP do not have parents with AIP.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
Can a person have 2 mutations in the gene that causes acute intermittent porphyria?

It is possible to have a mutation in both copies of the HMBS gene, the gene that causes acute intermittent porphyria when changed. To date, there have been 5 children reported with mutations in both copies of these genes. These children had severe symptoms that started early in childhood, such as problems with movement, delays in development, and brain differences.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Are there genotype-phenotype correlations in acute intermittent porphyria?

There are no definite genotype-phenotype correlations known yet. However, there is some evidence that mutation that keep at least 10% of the enzyme's original activity may be less severe than those that make the enzyme work less than 10% of its normal function.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Are there any founder mutations that cause acute intermittent porphyria?

A founder mutation is a genetic change that occurs in a specific population of people. These people usually share the same ethnicity, religion, or geographic location. There is a founder HMBS mutation for acute intermittent porphyria in Sweden which originated in Lappland. Therefore, people from Sweden are at increased risk of having a genetic change that causes acute intermittent porphyria.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)

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