{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:13:49Z","timestamp":1790680429375,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"5-6","license":[{"start":{"date-parts":[[2022,1,23]],"date-time":"2022-01-23T00:00:00Z","timestamp":1642896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1\u20138) is characterized by both N\u2010 and O\u2010protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG\u2010CDG). Patients with COG defects present with neurological and multisystem involvement and possible malformation occurrence. Eighteen patients with COG6\u2010CDG (\n                      <jats:italic>COG6<\/jats:italic>\n                      mutations) were reported to date. We describe a patient with COG6\u2010CDG with novel variants and a novel clinical feature namely a congenital recto\u2010vaginal fistula.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In\u2010depth serum N\u2010 and O\u2010glycosylation structural analyses were conducted by MALDI\u2010TOF mass spectrometry.\n                      <jats:italic>COG6<\/jats:italic>\n                      variants were identified by a gene panel and confirmed by Sanger sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      This female newborn presented with facial dysmorphism, distal arthrogryposis and recurrent stool discharges per vaginam. A double\u2010contrast barium\u2010enema X\u2010ray study revealed a dehiscence (approximately 5\u2009mm) at the anterior wall of the rectal ampoule communicating with the vagina consistent with a recto\u2010vaginal fistula. She had developmental delay, corpus callosum dysgenesis, liver and gastrointestinal involvement, hyperthermia episodes and early demise. Serum N\u2010 and O\u2010glycosylation analyses pointed to a profound Golgi disarrangement. We identified two novel variants in\n                      <jats:italic>COG6:<\/jats:italic>\n                      a deletion of 1\u00a0bp mutation c.823delA creating a shift in the reading frame and a premature stop codon and a 3\u00a0bp deletion (c.1141_1143delCTC) producing an in\u2010frame deletion of 1 amino acid.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The congenital recto\u2010vaginal fistula is a rare type of anorectal malformation that, to our knowledge, has not been reported in patients with a COG6 defect nor in patients with other COG defects. This study broadens COG6\u2010CDG genetic landscape and spectrum of malformations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/bdr2.1981","type":"journal-article","created":{"date-parts":[[2022,1,24]],"date-time":"2022-01-24T00:34:25Z","timestamp":1642984465000},"page":"165-174","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<scp>COG6\u2010CDG<\/scp>\n                    : Novel variants and novel malformation"],"prefix":"10.1002","volume":"114","author":[{"given":"Lara","family":"Cirnigliaro","sequence":"first","affiliation":[{"name":"Child Neurology and Psychiatry Section, Department of Clinical and Experimental Medicine University of Catania  Catania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Neonatology Unit Giovanni XXIII Hospital  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Sturiale","sequence":"additional","affiliation":[{"name":"CNR, Institute for Polymers, Composites and Biomaterials IPCB  Catania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Garozzo","sequence":"additional","affiliation":[{"name":"CNR, Institute for Polymers, Composites and Biomaterials IPCB  Catania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Mangili","sequence":"additional","affiliation":[{"name":"Neonatology Unit Giovanni XXIII Hospital  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth","family":"Keldermans","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Section, Department of Clinical and Experimental Medicine University of Catania  Catania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Matthijs","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Fiumara","sequence":"additional","affiliation":[{"name":"Referral Centre for Inherited Metabolic Disease Department of Clinical and Experimental Medicine, University of Catania  Catania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[{"name":"Department of Development and Regeneration, Centre for Metabolic Diseases University Hospital Gasthuisberg, KU Leuven  Catania 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