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

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 incomp...

Full description

Saved in:
Bibliographic Details
Published in:Gene 2013-04, Vol.518 (2), p.457-460
Main Authors: Holm, Ingunn, Monclair, Tom, Lundar, Tryggve, Stadheim, Barbro, Prescott, Trine E., Eiklid, Kristin L.
Format: Article
Language:English
Subjects:
Currarino syndrome
Deletion
GCCn repeat
genes
heterozygosity
MLPA
MNX1
mutation
pancreas
Penetrance
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 GCC12 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. ► We identified a heterozygous deletion of the entire MNX1 gene in a family with CS. ► Mutation analysis was performed by sequencing of the coding regions of MNX1. ► qPCR was run to determine the size of the deletion detected by MLPA. ► Gene dosage analysis is important when Sanger sequencing is negative.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2013.01.029