Tyrosinemia Type II

Inheritance

How is Tyrosinemia Type II inherited?

Tyrosinemia Type II is inherited in an autosomal recessive manner. This means that both copies of the gene have to have changes for the person to show signs and symptoms of the disease. When there are changes in the gene, it causes it to stop working. If only one copy of the gene has a change, the person is a carrier for Tyrosinemia Type II and does not have the condition. When two parents each carry a change in the TAT gene, each of their children will have a 1/4 (25%) chance of inheriting the non-working copy of the gene from each parent (causing the child to have two non-working copies).

References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
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What does it mean to have a "variant" in the gene for Tyrosinemia Type II?

What does it mean to have a "variant" in the gene for Tyrosinemia Type II?

A variant, also known as a variant of uncertain significance, is a change that is found in the TAT gene, but there is not a lot of information about that change. In many instances, a variant of uncertain significance is a change that has not been seen before in this gene. When this happens, the genetic community is not sure whether or not this change is part of normal human genetic variation or if it is a change that will cause Tyrosinemia Type II.

References
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii

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