Phenotype analysis impacts testing strategy in patients with Currarino syndrome.

@article{uturilo2016PhenotypeAI,
  title={Phenotype analysis impacts testing strategy in patients with Currarino syndrome.},
  author={Goran {\vC}uturilo and Jennelle C. Hodge and Cassandra K Runke and Erik C. Thorland and Mohammed A. Al-Owain and J. W. Ellison and Dusica Babovic-Vuksanovic},
  journal={Clinical genetics},
  year={2016},
  volume={89 1},
  pages={109-14}
}
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 of Currarino syndrome. To determine the most efficient genetic testing approach for… CONTINUE READING