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Article

Phenotype analysis impacts testing strategy in patients with Currarino syndrome.

Clinical genetics - 1 Jan 2016

Cuturilo G, Hodge J C, Runke C K, Thorland E C, Al-Owain M A, Ellison J W, Babovic-Vuksanovic D

Abstract excerpt

Currarino syndrome (OMIM 175450) presents with sacral, anorectal, and intraspinal anomalies and presacral meningocele or teratoma. Autosomal dominant loss-of-function mutations in the MNX1 gene cause nearly all familial and 30% of sporadic cases. Less frequently, a complex phenotype of Currarino syndrome can be caused by microdeletions of 7q containing MNX1. Here, we report one familial and three sporadic cases...

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Source

Identifiers

PMID: 25691298
DOI: 10.1111/cge.12572

Genes

MNX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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