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Article

Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype.

Gene - 1 Oct 2012

Markljung Ellen, Adamovic Tatjana, Cao Jia, Naji Hussein, Kaiser Sylvie, Wester Tomas, Nordenskjöld Agneta

Abstract excerpt

The Currarino syndrome (CS) consists of a sacral defect, an anorectal malformation and a pre-sacral mass. It manifests as an autosomal dominant congenital malformation in familial settings, with varying penetrance. The disease-causing gene, Motor neuron and pancreas homeobox-1 (MNX1), is known to be mutated in almost all familial cases, but due to the lack of genotype-phenotype correlation, there is a need for...

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Source

Identifiers

PMID: 22820079
DOI: 10.1016/j.gene.2012.06.096

Genes

MNX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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