Article
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.
American journal of human genetics - 4 May 2012
Romi Hila, Cohen Idan, Landau Daniella, Alkrinawi Suliman, Yerushalmi Baruch, Hershkovitz Reli, Newman-Heiman Nitza, Cutting Garry R, Ofir Rivka, Sivan Sara, Birk Ohad S
Abstract excerpt
Meconium ileus, intestinal obstruction in the newborn, is caused in most cases by CFTR mutations modulated by yet-unidentified modifier genes. We now show that in two unrelated consanguineous Bedouin kindreds, an autosomal-recessive phenotype of meconium ileus that is not associated with cystic fibrosis (CF) is caused by different homozygous mutations in GUCY2C, leading to a dramatic reduction or fully abrogating...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.