title: Genetics of human enteric neuropathies.
abstract: Knowledge of molecular mechanisms that underlie development of the enteric nervous system has greatly expanded in recent decades. Enteric neuropathies related to aberrant genetic development are thus becoming increasingly recognized. There has been no recent review of these often highly morbid disorders. This review highlights advances in knowledge of the molecular pathogenesis of these disorders from a clinical perspective. It includes diseases characterized by an infantile aganglionic Hirschsprung phenotype and those in which structural abnormalities are less pronounced. The implications for diagnosis, screening and possible reparative approaches are presented.
authors.affiliation: Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Panza
authors.forename: Charles H
authors.initials: CH
authors.lastname: Knowles
authors.forename: Claudio
authors.initials: C
authors.lastname: Graziano
authors.forename: Nikhil
authors.initials: N
authors.lastname: Thapar
authors.forename: Alan J
authors.initials: AJ
authors.lastname: Burns
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Stanghellini
authors.forename: Roberto
authors.initials: R
authors.lastname: De Giorgio
mesh_terms: D000818:Animals; D064987:Cell- and Tissue-Based Therapy; D003937:Diagnosis, Differential; D017615:Enteric Nervous System / Q000002:abnormalities* / Q000473:pathology / Q000502:physiology* / Q000503:physiopathology; D005817:Genetic Counseling; D005820:Genetic Testing; D015316:Genetic Therapy; D006627:Hirschsprung Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans