{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Le TL"],"funding":["Association Francophone de la Maladie de Hirschsprung","Agence Nationale de la Recherche under the “Investissements d’avenir” program","Fondation pour la Recherche Médicale","Association « Rires et tapage chez les Hirschsprung »","MSD-Avenir"],"pagination":["145837"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7954599"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["131(6)"],"pubmed_abstract":["Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo-obstruction (CIPO) is less frequent and classified as neurogenic or myogenic. Isolated HSCR has an oligogenic inheritance with RET as the major disease-causing gene, while CIPO is genetically heterogeneous, caused by mutations in smooth muscle-specific genes. Here, we describe a series of patients with developmental disorders including gastrointestinal dysmotility, and investigate the underlying molecular bases. Trio-exome sequencing led to the identification of biallelic variants in ERBB3 and ERBB2 in 8 individuals variably associating HSCR, CIPO, peripheral neuropathy, and arthrogryposis. Thorough gut histology reveale"],"journal":["The Journal of clinical investigation"],"pubmed_title":["Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans."],"pmcid":["PMC7954599"],"funding_grant_id":["FDT201904008113","ANR-10-IAHU-01","-","DEVO–DECODE project"],"pubmed_authors":["Tabet AC","Keren B","Lyonnet S","Le TL","Amiel J","de Coo IF","Lefebvre M","Capri Y","Hellebrekers DM","Boismoreau F","Nitschke P","Guimiot F","Whalen S","Gordon CT","Hofstra R","Drunat S","Marklund U","Hully M","Brooks A","Galmiche L","Babcock HE","Mouthon L","Morarach K","Molina TJ","Martinovic J","Theunissen TE","Pelet A","Chardot C","Gelot A","Calleroz A","Levy J","Goulet O","Bondurand N","Gitiaux C","Suwannarat P","Bole-Feysot C","Smeets HJ"],"additional_accession":[]},"is_claimable":false,"name":"Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.","description":"Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo-obstruction (CIPO) is less frequent and classified as neurogenic or myogenic. Isolated HSCR has an oligogenic inheritance with RET as the major disease-causing gene, while CIPO is genetically heterogeneous, caused by mutations in smooth muscle-specific genes. Here, we describe a series of patients with developmental disorders including gastrointestinal dysmotility, and investigate the underlying molecular bases. Trio-exome sequencing led to the identification of biallelic variants in ERBB3 and ERBB2 in 8 individuals variably associating HSCR, CIPO, peripheral neuropathy, and arthrogryposis. Thorough gut histology reveale","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Mar","modification":"2026-05-02T16:42:43.797Z","creation":"2022-02-10T14:49:03.474Z"},"accession":"S-EPMC7954599","cross_references":{"pubmed":["33497358"],"doi":["10.1172/JCI145837","10.1172/jci145837"]}}