{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:19:01Z","timestamp":1790695141352,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.ejmg.2020.104096","type":"journal-article","created":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T21:51:55Z","timestamp":1605045115000},"page":"104096","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family"],"prefix":"10.1016","volume":"63","author":[{"given":"Ehsan","family":"Razmara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homeyra","family":"Azimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Reza","family":"Tavasoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elnaz","family":"Fallahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadaf Valeh","family":"Sheida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milad","family":"Eidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amirreza","family":"Bitaraf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Farjami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0142-1301","authenticated-orcid":false,"given":"Mohammad Ali","family":"Daneshmand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2020.104096_bib1","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.spen.2007.07.003","article-title":"Microcephaly syndromes","volume":"14","author":"Abuelo","year":"2007","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.ejmg.2020.104096_bib2","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1038\/ng.3313","article-title":"A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome","volume":"47","author":"Alakbarzade","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2020.104096_bib3","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1042\/BJ20080165","article-title":"Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis","volume":"416","author":"Angers","year":"2008","journal-title":"Biochem. J."},{"issue":"1","key":"10.1016\/j.ejmg.2020.104096_bib4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12883-020-01873-3","article-title":"Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report","volume":"20","author":"Aryan","year":"2020","journal-title":"BMC Neurol."},{"key":"10.1016\/j.ejmg.2020.104096_bib5","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1212\/WNL.0b013e3181b783f7","article-title":"Practice parameter: evaluation of the child with microcephaly (an evidence-based review): report of the quality standards subcommittee of the American academy of neurology and the practice committee of the child neurology society","volume":"73","author":"Ashwal","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2020.104096_bib6","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/nature13324","article-title":"Mfsd2a is critical for the formation and function of the blood\u2013brain barrier","volume":"509","author":"Ben-Zvi","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2020.104096_bib7","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/nature13339","article-title":"Physiology: double function at the blood\u2013brain barrier","volume":"509","author":"Betsholtz","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2020.104096_bib8","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1038\/gim.2018.42","article-title":"The ACMG\/AMP reputable source criteria for the interpretation of sequence variants","volume":"20","author":"Biesecker","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2020.104096_bib9","doi-asserted-by":"crossref","first-page":"103853","DOI":"10.1016\/j.ejmg.2020.103853","article-title":"A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family","volume":"63","author":"Binaafar","year":"2020","journal-title":"Eur. J. Med. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2020.104096_bib10","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1002\/pd.4882","article-title":"Associated ultrasonographic findings in fetuses with microcephaly because of suspected Zika virus (ZIKV) infection during pregnancy","volume":"36","author":"Carvalho","year":"2016","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2020.104096_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.2006443","article-title":"The lysolipid transporter Mfsd2a regulates lipogenesis in the developing brain","volume":"16","author":"Chan","year":"2018","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ejmg.2020.104096_bib12","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1007\/s10545-017-0063-1","article-title":"Amino acid synthesis deficiencies","volume":"40","author":"De Koning","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2020.104096_bib13","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/jnr.24327","article-title":"Insights into major facilitator superfamily domain\u2010containing protein\u20102a (Mfsd2a) in physiology and pathophysiology. What do we know so far?","volume":"98","author":"Eser Ocak","year":"2018","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.ejmg.2020.104096_bib14","doi-asserted-by":"crossref","first-page":"3009","DOI":"10.1038\/ncomms4009","article-title":"Structure-based mechanism for Na+\/melibiose symport by MelB","volume":"5","author":"Ethayathulla","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ejmg.2020.104096_bib15","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1590\/S0004-282X2007000600001","article-title":"Corpus callosum index: a practical method for long-term follow-up in multiple sclerosis","volume":"65","author":"Figueira","year":"2007","journal-title":"Arq. Neuropsiquiatr."},{"key":"10.1016\/j.ejmg.2020.104096_bib16","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.msard.2018.01.015","article-title":"Correlation between the corpus callosum index and brain atrophy, lesion load, and cognitive dysfunction in multiple sclerosis","volume":"20","author":"Gon\u00e7alves","year":"2018","journal-title":"Mult. Scler. Relat. Disord."},{"key":"10.1016\/j.ejmg.2020.104096_bib17","doi-asserted-by":"crossref","first-page":"15294","DOI":"10.1073\/pnas.0707688104","article-title":"Structural determination of wild-type lactose permease","volume":"104","author":"Guan","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.ejmg.2020.104096_bib18","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1038\/ng.3311","article-title":"Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome","volume":"47","author":"Guemez-Gamboa","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2020.104096_bib19","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s10048-018-0556-6","article-title":"Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination","volume":"19","author":"Harel","year":"2018","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ejmg.2020.104096_bib20","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1086\/316909","article-title":"Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32","volume":"67","author":"Jamieson","year":"2000","journal-title":"M. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.104096_bib21","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1146\/annurev-genom-083117-021441","article-title":"The genetics of primary microcephaly","volume":"19","author":"Jayaraman","year":"2018","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.104096_bib22","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/BF01531564","article-title":"Autism in a child with congenital cytomegalovirus infection","volume":"13","author":"Markowitz","year":"1983","journal-title":"J. Autism Dev. Disord."},{"key":"10.1016\/j.ejmg.2020.104096_bib23","doi-asserted-by":"crossref","first-page":"e7","DOI":"10.1017\/S0016672318000046","article-title":"Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)","volume":"100","author":"Naveed","year":"2018","journal-title":"Genet. Res."},{"key":"10.1016\/j.ejmg.2020.104096_bib24","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1038\/nature13241","article-title":"Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid","volume":"509","author":"Nguyen","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2020.104096_bib25","first-page":"135","article-title":"No hot spot mutations CHRNE c. 1327 delG, CHAT c. 914T> C, and RAPSN c. 264C> A in Iranian patients with congenital myasthenic syndrome","volume":"13","author":"Omran","year":"2019","journal-title":"Iran. J. Child Neurol."},{"key":"10.1016\/j.ejmg.2020.104096_bib26","doi-asserted-by":"crossref","first-page":"117","DOI":"10.4049\/jimmunol.1801585","article-title":"The lysophosphatidylcholine transporter MFSD2A is essential for CD8+ memory T cell maintenance and secondary response to infection","volume":"203","author":"Piccirillo","year":"2019","journal-title":"J. Immunol."},{"key":"10.1016\/j.ejmg.2020.104096_bib28","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1093\/bioinformatics\/btl032","article-title":"PROFbval: predict flexible and rigid residues in proteins","volume":"22","author":"Schlessinger","year":"2006","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ejmg.2020.104096_bib29","doi-asserted-by":"crossref","first-page":"46","DOI":"10.4103\/ijpvm.IJPVM_101_17","article-title":"Ultrasound assessment of fetal biometry in Iranian normal pregnancies","volume":"10","author":"Shirazi","year":"2019","journal-title":"Int. J. Prev. Med."},{"key":"10.1016\/j.ejmg.2020.104096_bib30","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1053\/j.gastro.2017.07.048","article-title":"MFSD2A promotes endothelial generation of inflammation-resolving lipid mediators and reduces colitis in mice","volume":"153","author":"Ungaro","year":"2017","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2020.104096_bib31","doi-asserted-by":"crossref","first-page":"10501","DOI":"10.1074\/jbc.M116.721340","article-title":"Mfsd2a is a transporter for the essential \u03c9-3 fatty acid docosahexaenoic acid (DHA) in eye and is important for photoreceptor cell development","volume":"291","author":"Wong","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2020.104096_bib32","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1086\/429930","article-title":"Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings","volume":"76","author":"Woods","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.104096_bib33","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.tibs.2013.01.003","article-title":"Structural advances for the major facilitator superfamily (MFS) transporters","volume":"38","author":"Yan","year":"2013","journal-title":"Trends Biochem. Sci."},{"issue":"7","key":"10.1016\/j.ejmg.2020.104096_bib34","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.117.005811","article-title":"Mfsd2a (major facilitator superfamily domain containing 2a) attenuates intracerebral hemorrhage\u2013induced blood\u2013brain barrier disruption by inhibiting vesicular transcytosis","volume":"6","author":"Yang","year":"2017","journal-title":"J. Am. Heart. Assoc."},{"key":"10.1016\/j.ejmg.2020.104096_bib35","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1016\/j.neuron.2014.05.012","article-title":"Blood-brain barrier: a dual life of MFSD2A?","volume":"82","author":"Zhao","year":"2014","journal-title":"Neuron"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220308065?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220308065?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:50:45Z","timestamp":1761709845000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721220308065"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":34,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["S1769721220308065"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.104096","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.104096","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104096"}}