{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T15:43:49Z","timestamp":1783439029725,"version":"3.54.6"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T00:00:00Z","timestamp":1549497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Scientific and Technological Research Council of Turkey","award":["100132"],"award-info":[{"award-number":["100132"]}]},{"name":"The Republic of Turkey Ministry of Development Infrastructure","award":["2011K120020"],"award-info":[{"award-number":["2011K120020"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p><jats:italic>Purpose<\/jats:italic>: Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal recessive inherited allelic disorders, which share similar clinical features including microcephaly, intellectual disability, brain malformations, ocular abnormalities, and spasticity. Here, we revealed the functions of novel mutations in <jats:italic>RAB3GAP1<\/jats:italic> in a Turkish female patient with MS and two siblings with WARBM. We also present a review of MS patients as well as all reported <jats:italic>RAB3GAP1<\/jats:italic> pathogenic mutations in the literature. <jats:italic>Methods<\/jats:italic>: We present a female with MS phenotype and two siblings with WARBM having more severe phenotypes. We utilized whole\u2010exome sequencing to identify the molecular basis of these syndromes and confirmed suspected variants by Sanger sequencing. Quantitative (q) RT\u2010PCR analysis was carried out to reveal the functions of novel splice site mutation detected in MS patient. <jats:italic>Results<\/jats:italic>: We found a novel homozygous c.2607\u20101G&gt;C splice site mutation in intron 22 of <jats:italic>RAB3GAP1<\/jats:italic> in MS patient and a novel homozygous <jats:italic>c.2187_2188delinsCT, p.(Met729_Lys730delinsIleTer)<\/jats:italic> mutation in exon 19 of <jats:italic>RAB3GAP1<\/jats:italic> in the WARBM patients. We showed exon skipping in MS patient by Sanger sequencing and gel electrophoresis. qRT\u2010PCR analysis demonstrated the reduced expression of <jats:italic>RAB3GAP1<\/jats:italic> in the patient with the c.2607\u20101G&gt;C splice site mutation compared to a healthy control individual. <jats:italic>Conclusion<\/jats:italic>: Here, we have studied two novel <jats:italic>RAB3GAP1<\/jats:italic> mutations in two different phenotypes; a MS associated novel splice site mutation, and a WARBM1 associated novel deletion\u2013insertion mutation. Our findings suggest that this splice site mutation is responsible for milder phenotype and the deletion\u2013insertion mutation presented here is associated with severe phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.61065","type":"journal-article","created":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T21:01:25Z","timestamp":1549573285000},"page":"579-587","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Revealing the functions of novel mutations in <i>RAB3GAP1<\/i> in Martsolf and Warburg micro syndromes"],"prefix":"10.1002","volume":"179","author":[{"given":"Asuman","family":"Koparir","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omer Faruk","family":"Karatas","sequence":"additional","affiliation":[{"name":"Molecular Biology and Genetics Department Erzurum Technical University  Erzurum Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seda Salman","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul University, Cerrahpasa Medical School  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilknur","family":"Suer","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bugra","family":"Ozer","sequence":"additional","affiliation":[{"name":"Advanced Genomics and Bioinformatics Research Center The Scientific and Technological Research Council of Turkey (TUBITAK\u2010BILGEM)  Kocaeli Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betul","family":"Yuceturk","sequence":"additional","affiliation":[{"name":"Advanced Genomics and Bioinformatics Research Center The Scientific and Technological Research Council of Turkey (TUBITAK\u2010BILGEM)  Kocaeli Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6142-5294","authenticated-orcid":false,"given":"Mustafa","family":"Ozen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul University, Cerrahpasa Medical School  Istanbul Turkey"},{"name":"Department of Pathology and Immunology Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1517"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/502681"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2015.09.006"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.012"},{"issue":"1","key":"e_1_2_8_6_1","first-page":"71","article-title":"A new case of Martsolf syndrome","volume":"18","author":"Bora E.","year":"2007","journal-title":"Genetic Counseling"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20100699"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0740-z"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.021808"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31626"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.101378"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201403026"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt686"},{"key":"e_1_2_8_15_1","first-page":"2","article-title":"A genetic syndrome that mimics congenital TORCH infection","volume":"9","author":"Gupta N. 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