A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome

作者：Holm Ingunn^*; Monclair Tom; Lundar Tryggve; Stadheim Barbro; Prescott Trine E; Eiklid Kristin L

来源：Gene, 2013, 518(2): 457-460.

DOI：10.1016/j.gene.2013.01.029

• Currarino syndrome
• MNX1
• Deletion
• MLPA
• Penetrance
• GCC(n) repeat

Currarino syndrome (CS) is a clinically variable disorder characterized by anorectal, sacral and presacral anomalies. It is associated with loss-of-function mutations in the motor neuron and pancreas homeobox 1 (MNX1) gene. Inheritance is autosomal dominant, expression variable and penetrance incomplete. We describe a Norwegian family with typical CS in which a heterozygous deletion removes the entire MNX1 gene but no other known genes. We also report MNX1 mutations in three other Norwegian families and confirm that the GCC(12) repeat (c.373_375[12]) is a normal allelic variant. This work underscores the importance of dosage analysis of MNX1 when Sanger sequencing is negative.

• 出版日期2013-4-15