{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Accogli A"],"funding":["Fonds de Recherche du Québec - Santé","NHGRI NIH HHS","NINDS NIH HHS","Canada Foundation for Innovation","National Institutes of Health","Canadian Institutes of Health Research","CIHR"],"pagination":["854-868"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6817525"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["105(4)"],"pubmed_abstract":["Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been linked to a Mendelian neurodevelopmental disorder. Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable a"],"journal":["American journal of human genetics"],"pubmed_title":["De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects."],"pmcid":["PMC6817525"],"funding_grant_id":["U01 HG007690","R01 NS058721","FDN334023","UM1 HG008900"],"pubmed_authors":["Dasari S","Cole FS","Undiagnosed Diseases Network","Liu XZ","Emrick LT","Murdock DR","Novacic D","Accogli A","Malicdan MCV","Sutton S","Lincoln SA","Argilli E","Butte MJ","Walker M","Stoler JM","Bonner D","Moretti PM","Woods JD","Cooper CM","Loo SK","Trimouille A","Coakley TR","Pallais JC","Lau CC","Fieg EL","Papp JC","Bellen HJ","Acosta MT","Kelley EG","Chang TCP","Posey JE","Lanza IR","Yu G","Silverman EK","Brush M","Forghani I","Begtrup A","Stong N","May T","Riviere JB","Lafond-Lapalme J","Dayal JG","Vogel TP","Adams DR","Gropman AL","Duncan L","Krakow D","Zhao C","Martin MG","Azamian MS","Bale J","Fisher PG","Fogel BL","McWalter K","Renteria G","Groden CA","Sinsheimer JS","Lanpher BC","Scott DA","McCray AT","Phillips JA","Kyle JE","Newman JH","Jiang YH","Sweetser DA","Keren B","Koziura M","Alvey J","Tran AA","McDonald M","Macnamara EF","Carrasquillo O","Signer R","Cobban LA","Pusey BN","Newberry JS","Marth G","Cogan JD","Schaechter J","Wang LK","Nicholas SK","Bivona S","Tabor HK","Sharma P","Bejerano G","Estwick T","Dhar SU","Craigen WJ","Might M","Isasi R","Wangler MF","Jones AL","Karaviti L","Pak S","Zuchner S","Bayrak-Toydemir P","Martin BA","Fieg E","Hayes N","Longo N","Rosenfeld JA","Batzli GF","Jamal F","Mao R","Liu P","Mamounas LA","Wambach J","Lalani SR","Dorrani N","Parker NH","Yam PT","Palmer CGS","Srour M","Saporta M","Sillari CH","Orengo JP","Thorson W","Telischi F","Wheeler MT","Calabretta S","Morava-Kozicz E","Martinez-Agosto JA","Wise AL","Koeller DM","Boudrahem-Addour N","Tekin M","Eng CM","D'Souza P","Haendel M","Hom J","Fresard L","Draper DD","Van-Gils J","Nelson SF","Smith KS","Bick DP","Krasnewich DM","Walsh CA","Bohnsack J","Urv TK","Tifft CJ","Wan J","Baldridge D","Lewis RA","Waters KM","Holm IA","Sacco R","Shakachite L","Solnica-Krezel L","Clark GD","Markello TC","Shields K","McCauley J","McCormack CE","Rodan LH","Postlethwait JH","Kohane IS","Samson SL","Potocki L","Grajewski A","Wegner D","Rives L","Andrews A","Kiley D","Bostwick BL","Kohler JN","Lee H","Shashi V","Nath A","Botto L","Ashley EA","Davids M","Bacino CA","Majcherska MM","Alejandro ME","Yoon AJ","Eckstein DJ","Barbouth D","Birch CL","Briere LC","Fernandez L","Ferreira C","Quinlan A","Krier JB","Delphine H","Ruzhnikov M","St-Onge J","Boone BE","Dionne-Laporte A","Brown DM","Beggs AH","Marwaha S","Simpson BN","Huang Y","Bonnenmann C","Hamid R","Zastrow DB","Reuter CM","Agrawal P","Raja AN","Spillmann RC","Sisco K","Balasubramanyam A","Burrage LC","Morimoto M","Shin J","Baker E","Schoch K","Marom R","Manolio TA","Toro C","Pace L","Rouleau GA","Lee BH","Chao HT","Esteves C","Huang A","Oglesbee D","Hanchard NA","Velinder M","Yang J","Charron F","Worthey EA","McConkie-Rosell A","Rauch A","Maduro VV","Yamamoto S","Krier J","Viskochil D","Sherr EH","Metz TO","Carey J","Goldman AM","Gourdine JF","Sampson JB","Severino M","Joset P","Levitt R","Bademci G","Azzarello-Burri S","Dorset DC","High F","Freedman SF","Bernstein JA","Berry GT","Levy SE","Bican A","Burke EA","Brokamp E","Allard P","Goldstein DB","Lam B","LeBlanc K","Walley NM","Robertson AK","Cope H","Ward PA","MacRae CA","Rowley RK","Sullivan JA","Hopkin RJ","Lazar J","Maas RL","Colley HA","Gahl WA","Loscalzo J","Mulvihill JJ","Genevieve D","Schedl T","Wolfe LA","Korrick S","Dell'Angelica EC","Johnston JM","Godfrey RA","Tan QK","Westerfield M","Douine ED","Wahl CE","Webb-Robertson BM","Tamburro CP"],"additional_accession":[]},"is_claimable":false,"name":"De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.","description":"Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been linked to a Mendelian neurodevelopmental disorder. Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable a","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Oct","modification":"2026-05-05T03:48:58.045Z","creation":"2025-02-19T03:38:15.292Z"},"accession":"S-EPMC6817525","cross_references":{"pubmed":["31585109"],"doi":["10.1016/j.ajhg.2019.09.005"]}}