کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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2817393 | 1159985 | 2013 | 4 صفحه PDF | دانلود رایگان |
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.
Journal: Gene - Volume 518, Issue 2, 15 April 2013, Pages 457–460