CURRARINO SYNDROME

MNX1 GENE ANALYSIS IN CURRARINO SYNDROME

Currarino syndrome caused by disease-causing variants in the MNX1 gene is a congenital disorder characterized by agenesis of the sacrum, anal atresia and a pre-sacral mass. Addition clinical manifestations include tethered cord and/or lipoma of the conus. The disorder is transmitted in an autosomal dominant manner with variable expressivity.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.