Ontology highlight
ABSTRACT:
SUBMITTER: Romi H
PROVIDER: S-EPMC3376486 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Romi Hila H Cohen Idan I Landau Daniella D Alkrinawi Suliman S Yerushalmi Baruch B Hershkovitz Reli R Newman-Heiman Nitza N Cutting Garry R GR Ofir Rivka R Sivan Sara S Birk Ohad S OS
American journal of human genetics 20120419 5
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 the enzymatic activity of the encoded guanlyl cyclase 2C. GUCY2C is a transmembrane ...[more]