{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:13:25Z","timestamp":1753877605736,"version":"3.41.2"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"4-5","license":[{"start":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T00:00:00Z","timestamp":1590105600000},"content-version":"vor","delay-in-days":51,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Warburg Micro syndrome is a rare autosomal recessive disease due to mutation in the RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. It is commonly seen in consanguineous marriages, characterized by optic (microcornea, microphthalmia, congenital cataracts), neurologic )microcephaly, corpus callosum hypoplasia, severe mental retardation( and hypogonadism; some non-typical findings could be present (cardiomyopathy, peripheral neuropathy). We report a novel homozygous mutation in the RAB3GAP1 gene in a 7-month-old boy from healthy nonconsanguineous parents from the same village in Syria, with bilateral congenital cataracts, hypogonadism, muscular hypotonia and severe developmental delay. Whole exome sequencing (WES) showed a homozygous mutation in the c.2195del p.(Pro732Glnfs*6) in exon 19 of the RAB3GAP1 gene, which is likely pathogenic and correlates with Warburg Micro syndrome type 1.<\/jats:p>","DOI":"10.1093\/omcr\/omaa031","type":"journal-article","created":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T13:21:31Z","timestamp":1590153691000},"source":"Crossref","is-referenced-by-count":5,"title":["Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria"],"prefix":"10.1093","volume":"2020","author":[{"given":"Soubhi","family":"Tenawi","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rawan","family":"Al Khudari","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Alasmar","sequence":"additional","affiliation":[{"name":"Professor of Inborn Errors of Metabolism, Pediatrics Department, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,5,23]]},"reference":[{"key":"2020080708362653400_ref1","doi-asserted-by":"publisher","first-page":"1309","DOI":"10.1001\/archpedi.1993.02160360051017","article-title":"Autosomal recesssive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and Hypogenitalism: micro syndrome","volume":"147","author":"Warburg","year":"1993","journal-title":"JAMA Pediatr"},{"key":"2020080708362653400_ref2","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1002\/humu.22296","article-title":"Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype\u2013phenotype correlations in Warburg micro syndrome and 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among minority ethnic populations: lessons from local innovations in England","volume":"7","author":"Salway","year":"2016","journal-title":"J Community Genet"}],"container-title":["Oxford Medical Case 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