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In order to further delineate the genotypic and phenotypic spectrum of COG complex defect, we describe a novel variant of <jats:italic>COG6<\/jats:italic> gene found in homozygosity in a Moroccan patient with severe presentation of COG6\u2010CDG (OMIM #614576). We compared the phenotype of our patient with other previously reported COG6\u2010CDG cases. Common features in COG6\u2010CDG are facial dysmorphism, growth retardation, microcephaly, developmental disability, liver or gastrointestinal disease, recurrent infections, hypohidrosis\/hyperthermia. In addition to these phenotypic features, our patient exhibited a disorder of sexual differentiation, which has rarely been reported in COG6\u2010CDG. We hypothesize that the severe <jats:italic>COG6<\/jats:italic> gene mutation interferes with glycosylation of a disintegrin and metalloprotease family members, inhibiting the correct gonadal distal tip cells migration, fundamental for the genitalia morphogenesis. This report broadens the genetic and phenotypic spectrum of COG6\u2010CDG and provides further supportive evidence that COG6\u2010CDG can present as a disorder of sexual differentiation.<\/jats:p>","DOI":"10.1002\/ajmg.a.62061","type":"journal-article","created":{"date-parts":[[2021,1,4]],"date-time":"2021-01-04T19:31:16Z","timestamp":1609788676000},"page":"1187-1194","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Disorder of sex development associated with a novel homozygous nonsense mutation in <scp><i>COG6<\/i><\/scp> expands the phenotypic spectrum of <scp>COG6\u2010CDG<\/scp>"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2149-0083","authenticated-orcid":false,"given":"Licia","family":"Lugli","sequence":"first","affiliation":[{"name":"Neonatology Unit, Mother\u2010Child Department University Hospital of Modena  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Carolina","family":"Bariola","sequence":"additional","affiliation":[{"name":"Post\u2010graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults University of Modena and Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Ferri","sequence":"additional","affiliation":[{"name":"Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department Meyer Children's Hospital  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Lucaccioni","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Mother\u2010Child Department University Hospital of Modena  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Bertucci","sequence":"additional","affiliation":[{"name":"Obstetric\u2010Gynecology Unit, Mother\u2010Child Department University Hospital of Modena  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Cattini","sequence":"additional","affiliation":[{"name":"Post\u2010graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults University of Modena and Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Torcetta","sequence":"additional","affiliation":[{"name":"Neonatology Unit, Mother\u2010Child Department University Hospital of Modena  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Morrone","sequence":"additional","affiliation":[{"name":"Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department Meyer Children's Hospital  Florence Italy"},{"name":"Department of Neurosciences, Psychology, Pharmacology and Child Health University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Iughetti","sequence":"additional","affiliation":[{"name":"Post\u2010graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults University of Modena and Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Berardi","sequence":"additional","affiliation":[{"name":"Neonatology Unit, Mother\u2010Child Department University Hospital of Modena  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,4]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38358"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2018_88"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61030"},{"key":"e_1_2_8_5_1","first-page":"23","article-title":"COG complex complexities: detailed characterization of a complete set of HEK 293T cells lacking individual COG subunits","volume":"4","author":"Bailey B. 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