Mutant Neurogenin-3 in Congenital Malabsorptive Diarrhea

• Published in: The New England journal of medicine Vol. 355; no. 3; pp. 270 - 280
• Main Authors: Wang, Jiafang, Cortina, Galen, Wu, S. Vincent, Tran, Robert, Cho, Jang-Hyeon, Tsai, Ming-Jer, Bailey, Travis J, Jamrich, Milan, Ament, Marvin E, Treem, William R, Hill, Ivor D, Vargas, Jorge H, Gershman, George, Farmer, Douglas G, Reyen, Laurie, Martín, Martín G
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 20.07.2006
• Subjects: Amino Acid Sequence; Base Sequence; Basic Helix-Loop-Helix Transcription Factors - genetics; Basic Helix-Loop-Helix Transcription Factors - metabolism; Biological and medical sciences; Chronic Disease; Diarrhea; Diarrhea - congenital; Diarrhea - genetics; Diarrhea - pathology; Enteroendocrine Cells - pathology; Fatal Outcome; General aspects; Humans; Infant, Newborn; Intestine, Small - pathology; Malabsorption Syndromes - complications; Malabsorption Syndromes - genetics; Malabsorption Syndromes - pathology; Male; Medical research; Medical sciences; Molecular Sequence Data; Mutation, Missense; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Patients; Promoter Regions, Genetic; Proteins; Xenopus; Medicine; Diarrhea; Digestive diseases; Intestinal disease; Mutation; Congenital

This study shows that mutations in the neurogenin-3 gene are associated with a virtual absence of enteroendocrine cells and with malabsorptive diarrhea. Neurogenin-3 is critical to the differentiation of enteroendocrine cells, and the presence of these cells is required for absorption of nutrients b...