{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:24:54Z","timestamp":1791365094706,"version":"4.3.1"},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,18]],"date-time":"2019-05-18T00:00:00Z","timestamp":1558137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009983","name":"Center for Molecular Medicine Cologne, University of Cologne","doi-asserted-by":"publisher","award":["CMMC C16"],"award-info":[{"award-number":["CMMC C16"]}],"id":[{"id":"10.13039\/501100009983","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG 945\/19\u20101"],"award-info":[{"award-number":["DFG 945\/19\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011272","name":"FP7 Health","doi-asserted-by":"publisher","award":["2012\u2010305121"],"award-info":[{"award-number":["2012\u2010305121"]}],"id":[{"id":"10.13039\/100011272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Infantile hereditary lower motor neuron disorders beyond 5q\u2013spinal muscular atrophy (5q\u2010SMA) are usually caused by mutations other than deletions or mutations in\n                    <jats:italic>SMN1<\/jats:italic>\n                    . In addition to motor neuron degeneration, further neurologic or multisystemic pathologies in non\u20105q\u2010SMAs are not seldom. Some of the non\u20105q\u2010SMA phenotypes, such as pontocerebellar hypoplasia (PCH1), have been classified later as a different disease group due to distinctive primary pathologies. Likewise, a novel phenotype, childhood\u2010onset neurodegeneration with cerebellar atrophy (CONDCA) has been described recently in individuals with lower motor neuron disorder and cerebellar atrophy due to biallelic loss\u2010of\u2010function variants in\n                    <jats:italic>AGTPBP1<\/jats:italic>\n                    that encodes cytosolic carboxypeptidase 1 (CCP1). Here we present two individuals with CONDCA in whom a biallelic missense\n                    <jats:italic>AGTPBP1<\/jats:italic>\n                    variant (NM_001330701.1:c.2396G&gt;T, p.Arg799Leu) was identified by whole exome sequencing. Affected individuals in this report correspond to the severe infantile spectrum of the disease and underline the severe pathogenic effect of this missense variant. This report is the second in the literature that delineates the pathogenic effects of biallelic\n                    <jats:italic>AGTPBP1<\/jats:italic>\n                    variants presenting the recently described CONDCA disease.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61198","type":"journal-article","created":{"date-parts":[[2019,5,18]],"date-time":"2019-05-18T09:29:24Z","timestamp":1558171764000},"page":"1580-1584","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Biallelic variant in\n                    <i>AGTPBP1<\/i>\n                    causes infantile lower motor neuron degeneration and cerebellar atrophy"],"prefix":"10.1002","volume":"179","author":[{"given":"Mert","family":"Karakaya","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cem","family":"Paketci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dokuz Eyl\u00fcl University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Altmueller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne University of Cologne  Cologne Germany"},{"name":"Cologne Center for Genomics (CCG) University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irmgard","family":"Hoelker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uluc","family":"Yis","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dokuz Eyl\u00fcl University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4051-5191","authenticated-orcid":false,"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5287"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1068912"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23560"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu169"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.006"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2018100540"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/6509493"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww212"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2254"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/hdy.2012.23"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61198","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61198","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61198","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61198","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T02:26:07Z","timestamp":1694312767000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,18]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/ajmg.a.61198"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61198","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,18]]},"assertion":[{"value":"2019-02-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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