Currarino syndrome ... (Currarino Syndrome) - Gen MNX1.

The Currarino syndrome is a rare inherited disorder that belongs to the group of neuroentéricas malformations and characterized by malformation anorectal defect and presacral sacrococcygeal tumor, which in most cases corresponds to a teratoma or previous myelomeningocele. Anorectal malformation most common is anal atresia or stenosis. The most common defect sacrococcygeal corresponds to hemisacrum or scimitar sacrum, but may be other segmental abnormalities.

Signs and symptoms of the disease include sacral agenesis, presacral mass, anorectal malformation, rectovaginal fistula, duplex ureter, hydronephrosis, vesicoureteral reflux, neurogenic bladder and uterus bicorne. Affected individuals experience constipation and perianal sepsis. Other signs and symptoms include fatal polymicrobial encephalitis, arachnoiditis, and hydroureteronephrosis.

This process is due to mutations in the gene MNX1 (HLXB9), located on the long arm of chromosome 7 (7q36). This gene encodes a nuclear protein containing a homeobox domain is a transcription factor.

They have identified more than 43 mutations in the MNX1 (HLXB9) gene in people with the disease. The mutations identified in the gene, are due to a microdeletion D7S637-D7S594 in the interval. They have been identified heterozygous point mutations that are expected to cause harmful changes in the protein. Mutations directly or indirectly affect the DNA binding domain.

This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to cause the alteration.

Tests in IVAMI: in IVAMI perform detection of mutations associated with Currarino syndrome by complete PCR amplification of exons MNX1 gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).