{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rebelo AP"],"funding":["NCATS-ORD","The Genesis Project foundation","Fondazione CARIPLO","MDA","Italian Ministry of Health - Ricerca Corrente","NINDS","Hereditary Neuropathy Foundation","CMT-Association","Medical Research Council","Israel Science Foundation","NINDS NIH HHS","Hanna Hertz Professorial Chair for Multiple Sclerosis and Neuroscience","Dr Miriam and Sheldon G. Adelson Medical Research Foundation"],"pagination":["1197-1213"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8105037"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["144(4)"],"pubmed_abstract":["The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is essential for the structural organization of myelinated fibres and is primarily mediated by the binding of CADM3, expressed in axons, to CADM4, expressed by myelinating Schwann cells. We have identified-by whole exome sequencing-three unrelated families, including one de novo patient, with axonal Charcot-Marie-Tooth disease (CMT2) sharing the same private variant in CADM3, Tyr172Cys. This variant is absent in 230 000 control chromosomes from gnomAD and predicted to be pathogenic. Most CADM3 patients share a similar phenotype consisting of autosomal d"],"journal":["Brain : a journal of neurology"],"pubmed_title":["A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement."],"pmcid":["PMC8105037"],"funding_grant_id":["R01NS105755","U54 NS065712","R01 NS105755","U54NS065712","MR/T001712/1","2019-1836"],"pubmed_authors":["Eshed-Eisenbach Y","Camarena V","Castro D","Abraham A","Vainshtein A","Cortese A","Gaidosh G","Peles E","Shy ME","Abreu L","Bai Y","Bacon C","Burns DK","Rebelo AP","Shiekhattar R","Shner G","Feely SME","Reilly MM","Zuchner S","Buglo E","Courel S"],"additional_accession":[]},"is_claimable":false,"name":"A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.","description":"The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is essential for the structural organization of myelinated fibres and is primarily mediated by the binding of CADM3, expressed in axons, to CADM4, expressed by myelinating Schwann cells. We have identified-by whole exome sequencing-three unrelated families, including one de novo patient, with axonal Charcot-Marie-Tooth disease (CMT2) sharing the same private variant in CADM3, Tyr172Cys. This variant is absent in 230 000 control chromosomes from gnomAD and predicted to be pathogenic. Most CADM3 patients share a similar phenotype consisting of autosomal d","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 May","modification":"2025-04-05T20:03:42.91Z","creation":"2025-04-05T20:03:42.91Z"},"accession":"S-EPMC8105037","cross_references":{"pubmed":["33889941"],"doi":["10.1093/brain/awab019"]}}