Currarino triad

What causes Currarino triad?

Currarino triad is caused by mutations in the MNX1 gene in nearly all familial and 30% of sporadic cases. These mutations in the gene are called loss of function mutations because the gene can no longer produce working (functional) protein.

Less frequently, a complex phenotype of Currarino triad can be caused by microdeletions of 7q containing MNX1 (the long arm of chromosome 7 is missing a small piece of DNA which includes MNX1 and other genes).

Last updated on 05-01-20

How is Currarino triad inherited?

Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

A significant interfamilial (between different families) and intrafamilial (within the same family) variability in expression has been found without any definite correlation to the genetic mutations. This means in one family, a parent might only have one very mild feature of Currarino triad while one of their children might have severe forms of all three features and yet another child might have a mild form of one feature and a severe form of another.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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