{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:15:13Z","timestamp":1787004913238,"version":"build-2736575974"},"reference-count":20,"publisher":"Necmettin Erbakan University Press","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Warburg micro (WARBM) syndrome is an autosomal recessive disease characterized by severe brain and eye abnormalities. Loss-of-function mutations in RAB18, RAB3GAP2, RAB3GAP1, or TBC1D20 can lead to this disease. Here, we present two unrelated WARBM syndrome patients who had an RAB3GAP1 c.559 C\u2009&gt;\u2009T, (p.Arg187Ter) and c.520 C\u2009&gt;\u2009T (p.Arg174Ter) homozygous state. Both patients had microcephaly, microphthalmia, microcornea, bilateral congenital cataracts, severe intellectual disability, and congenital hypotonia. Using the method of next-generation sequencing and sanger sequencing, we found two nonsense variations at the splice site in exon 7 of RAB3GAP1 in the WARBM syndrome patients. The mutations were predicted to cause the syndrome due to the early stop codon, and the patients had the WARBM1 syndrome. We present the first clinical report of two different unreported variants with RAB3GAP1 mutation in the literature.<\/jats:p>","DOI":"10.1055\/s-0043-1768693","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T18:59:06Z","timestamp":1683831546000},"page":"193-198","source":"Crossref","is-referenced-by-count":2,"title":["First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome"],"prefix":"10.53391","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5801-534X","authenticated-orcid":false,"given":"Nejmiye","family":"Akku\u015f","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Tokat Gaziosmanpasa University, Tokat, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tu\u011fba Ak\u0131n","family":"Duman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Haseki Training and Research Hospital, Ministry of Health, Istanbul, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2023,5,11]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"273","DOI":"10.5114\/fn.2016.62537","article-title":"Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy","volume":"54","author":"D Kabzi\u0144ska","year":"2016","journal-title":"Folia Neuropathol"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.ajhg.2013.10.011","article-title":"Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans","volume":"93","author":"R P Liegel","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1002\/humu.22296","article-title":"Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome","volume":"34","author":"M T Handley","year":"2013","journal-title":"Hum Mutat"},{"issue":"12","key":"ref4","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1001\/archpedi.1993.02160360051017","article-title":"Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome","volume":"147","author":"M Warburg","year":"1993","journal-title":"Am J Dis Child"},{"issue":"06","key":"ref5","doi-asserted-by":"crossref","first-page":"150047","DOI":"10.1098\/rsob.150047","article-title":"Warburg micro syndrome is caused by RAB18 deficiency or dysregulation","volume":"5","author":"M T Handley","year":"2015","journal-title":"Open Biol"},{"issue":"06","key":"ref6","first-page":"711","article-title":"A novel mouse model of Warburg micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton","volume":"7","author":"S M Carpanini","year":"2014","journal-title":"Dis Model Mech"},{"issue":"01","key":"ref7","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1152\/physrev.00003.2012","article-title":"Regulation of small GTPases by GEFs, GAPs, and GDIs","volume":"93","author":"J Cherfils","year":"2013","journal-title":"Physiol Rev"},{"issue":"03","key":"ref8","first-page":"491","article-title":"Micro syndrome in Muslim Pakistan children","volume":"108","author":"J R Ainsworth","year":"2001","journal-title":"Ophthalmology"},{"issue":"03","key":"ref9","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/ajmg.a.30060","article-title":"MICRO syndrome: an entity distinct from COFS syndrome","volume":"128A","author":"J M Graham Jr","year":"2004","journal-title":"Am J Med Genet A"},{"key":"ref10","first-page":"1","volume-title":"RAB18 Deficiency. GeneReviews\u00ae","author":"M Handley","year":"2018"},{"issue":"01","key":"ref11","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s00439-010-0896-2","article-title":"A homozygous RAB3GAP2 mutation causes Warburg micro syndrome","volume":"129","author":"G Borck","year":"2011","journal-title":"Hum Genet"},{"issue":"04","key":"ref12","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.ajhg.2011.03.012","article-title":"Loss-of-function mutations in RAB18 cause Warburg micro syndrome","volume":"88","author":"D Bem","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"02","key":"ref13","first-page":"169","article-title":"Warburg micro syndrome in two children from a highly inbred Turkish family","volume":"23","author":"M S Yildirim","year":"2012","journal-title":"Genet Couns"},{"issue":"05","key":"ref14","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1083\/jcb.201403026","article-title":"Rab18 and a Rab18 GEF complex are required for normal ER structure","volume":"205","author":"A Gerondopoulos","year":"2014","journal-title":"J Cell Biol"},{"issue":"04","key":"ref15","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.neuron.2011.01.025","article-title":"Rab3-GAP controls the progression of synaptic homeostasis at a late stage of vesicle release","volume":"69","author":"M M\u00fcller","year":"2011","journal-title":"Neuron"},{"issue":"26","key":"ref16","doi-asserted-by":"crossref","first-page":"10029","DOI":"10.1073\/pnas.0600304103","article-title":"Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3","volume":"103","author":"A Sakane","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"01","key":"ref17","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1111\/febs.15313","article-title":"The Warburg micro syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I","volume":"288","author":"S Tak\u00e1ts","year":"2021","journal-title":"FEBS J"},{"issue":"09","key":"ref18","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1007\/s00726-021-03058-9","article-title":"Global effects of RAB3GAP1 dysexpression on the proteome of mouse cortical neurons","volume":"53","author":"Y Liu","year":"2021","journal-title":"Amino Acids"},{"issue":"12","key":"ref19","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.4161\/15548627.2014.994359","article-title":"RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy","volume":"10","author":"N Spang","year":"2014","journal-title":"Autophagy"},{"issue":"07","key":"ref20","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1080\/15548627.2020.1753926","article-title":"On-demand autophagic network adaptations upon limited lipid availability","volume":"16","author":"A Kern","year":"2020","journal-title":"Autophagy"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-1768693.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:46:02Z","timestamp":1758138362000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-1768693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,11]]},"references-count":20,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2023,8,11]]},"published-print":{"date-parts":[[2023,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-1768693","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,11]]}}}