{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:49:57Z","timestamp":1786978197664,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:00Z","timestamp":1701129600000},"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":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To describe clinical and ocular abnormalities in a case of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A clinical report.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description<\/jats:title>\n                    <jats:p>An infant born to a consanguineous Middle Eastern family who was delivered by cesarean section because of in utero growth restriction, premature labor, and breech presentation. Post\u2010partum medical problems included hypotension, generalized hypotonia, bradycardia, apnea requiring resuscitation and positive pressure ventilation, facial dysmorphia, skeletal malformations, and disorders of the gastrointestinal, immune, urinary, respiratory, cardiac, and visual systems. The family reported that a previous child had severe hypotonia at birth and was given the diagnosis of hypoxic ischemic encephalopathy; that child remains on a ventilator in a chronic care facility. Our patient was found to be homozygous for a novel pathogenic missense variant in theZNF699 zinc finger gene on chromosome 19p13 causing a syndrome known as Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome). We review this variable syndrome, including abnormalities of the visual system not described previously.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We describe the 15th child to be presumably identified with the DEGCAGS syndrome and the first individual with homozygous missense variants in the ZNF699 gene who had complete clinical examination and detailed retinal imaging.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2329","type":"journal-article","created":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T04:13:43Z","timestamp":1701144823000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and ocular abnormalities in DEGCAGS syndrome\u2014Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities"],"prefix":"10.1002","volume":"12","author":[{"given":"Syed M.","family":"Ali","sequence":"first","affiliation":[{"name":"Moorfields Eye Hospital Abu\u2010Dhabi  Abu Dhabi UAE"},{"name":"Mohammed Bin Rashed University  Dubai UAE"},{"name":"Danat Al Emarat Hospital  Abu Dhabi UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dua A.","family":"AlMasri","sequence":"additional","affiliation":[{"name":"Danat Al Emarat Hospital  Abu Dhabi UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos E.","family":"Prada","sequence":"additional","affiliation":[{"name":"Division of Genetics, Birth Defects &amp; Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics Feinberg School of Medicine of Northwestern University  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Radiology and Radiological Science Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M.","family":"Bosley","sequence":"additional","affiliation":[{"name":"The Neuro\u2010Ophthalmology Division, The Wilmer Eye Institute Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1813-0017","authenticated-orcid":false,"given":"Igor","family":"Kozak","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital Abu\u2010Dhabi  Abu Dhabi UAE"},{"name":"Mohammed Bin Rashed University  Dubai UAE"},{"name":"Danat Al Emarat Hospital  Abu Dhabi UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/YPG.0000000000000105"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2021.108753"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01159-0"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13020168"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/cddiscovery.2017.71"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M113.035600"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1420"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/500306"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-189"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001891"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03864"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/380309"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2329","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T07:25:44Z","timestamp":1706513144000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2329"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,28]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2329"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2329","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,28]]},"assertion":[{"value":"2023-06-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2329"}}