{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:40:48Z","timestamp":1758192048074,"version":"3.44.0"},"reference-count":22,"publisher":"Necmettin Erbakan University Press","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Polymicrogyria (PMG) has environmental or genetic etiologies. We report a 8-year-old boy with diffuse PMG and two novel adhesion G protein-coupled receptor G1 (ADGRG1)\/G protein-coupled receptor 56 (GPR56) mutations.<\/jats:p><jats:p>\n          Case Report\u2003The proband has intellectual disability, spastic quadriparesis, and intractable epilepsy without antenatal or perinatal insults. Brain magnetic resonance imaging revealed PMG involving fronto-polar, parietal and occipital lobes with decreasing antero-posterior gradient, and a thinned-out brain stem. Targeted exome sequencing identified two novel compound heterozygote ADGRG1\/GPR56 mutations (c.C209T and c.1010dupT), and each parent carries one of these mutations. Subsequent pregnancy was terminated because the fetus had the same mutations.<\/jats:p><jats:p>\n          Conclusion\u2003The detected mutations expanded the genetic etiology of PMG and helped the family to avoid another child with this devastating condition.<\/jats:p>","DOI":"10.1055\/s-0040-1714716","type":"journal-article","created":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T18:56:14Z","timestamp":1596048974000},"page":"074-080","source":"Crossref","is-referenced-by-count":2,"title":["Two Novel Compound Heterozygous ADGRG1\/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria"],"prefix":"10.53391","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1018-1143","authenticated-orcid":false,"given":"Ruchika","family":"Jha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Armed Forces Medical College, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uday B.","family":"Kovilapu","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Armed Forces Medical College, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit","family":"Devgan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Armed Forces Medical College, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2367-6591","authenticated-orcid":false,"given":"Vishal","family":"Sondhi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Armed Forces Medical College, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,7,29]]},"reference":[{"issue":"05","key":"ref1","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1136\/jmg.2004.023952","article-title":"Genetics of the polymicrogyria syndromes","volume":"42","author":"A Jansen","year":"2005","journal-title":"J Med Genet"},{"issue":"02","key":"ref2","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.c.31399","article-title":"Polymicrogyria: a common and heterogeneous malformation of cortical development","volume":"166C","author":"C A Stutterd","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1093\/brain\/awq078","article-title":"Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients","volume":"133","author":"R J Leventer","year":"2010","journal-title":"Brain"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/dmcn.13166","article-title":"MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations","volume":"59","author":"K Himmelmann","year":"2017","journal-title":"Dev Med Child Neurol"},{"issue":"11","key":"ref5","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1007\/s12098-017-2475-1","article-title":"Cerebral palsy: an overview","volume":"85","author":"S Gulati","year":"2018","journal-title":"Indian J Pediatr"},{"volume-title":"Polymicrogyria overview. GeneReviews\u00ae [Internet]","year":"2018","author":"C A Stutterd","key":"ref6"},{"issue":"22","key":"ref7","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1002\/ajmg.a.31443","article-title":"Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation","volume":"140","author":"N H Robin","year":"2006","journal-title":"Am J Med Genet A"},{"issue":"05","key":"ref8","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1002\/ana.20616","article-title":"Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes","volume":"58","author":"X Piao","year":"2005","journal-title":"Ann Neurol"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.pediatrneurol.2011.02.004","article-title":"A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria","volume":"45","author":"R Luo","year":"2011","journal-title":"Pediatr Neurol"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1055\/s-0037-1612591","article-title":"Three mutations in the bilateral frontoparietal polymicrogyria gene GPR56 in Pakistani intellectual disability families","volume":"7","author":"H A Sawal","year":"2018","journal-title":"J Pediatr Genet"},{"issue":"02","key":"ref11","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1055\/s-0034-1399754","article-title":"Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype","volume":"46","author":"R Santos-Silva","year":"2015","journal-title":"Neuropediatrics"},{"issue":"06","key":"ref12","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1111\/j.1528-1167.2008.01787.x","article-title":"Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations","volume":"50","author":"E Parrini","year":"2009","journal-title":"Epilepsia"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1126\/science.1092780","article-title":"G protein-coupled receptor-dependent development of human frontal cortex","volume":"303","author":"X Piao","year":"2004","journal-title":"Science"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1126\/science.1244392","article-title":"Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning","volume":"343","author":"B I Bae","year":"2014","journal-title":"Science"},{"issue":"01","key":"ref15","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s10048-012-0352-7","article-title":"Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype","volume":"14","author":"C C Quattrocchi","year":"2013","journal-title":"Neurogenetics"},{"issue":"13","key":"ref16","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1177\/0883073815583335","article-title":"GPR56-related polymicrogyria: clinicoradiologic profile of 4 patients","volume":"30","author":"N A Desai","year":"2015","journal-title":"J Child Neurol"},{"issue":"06","key":"ref17","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.braindev.2013.07.015","article-title":"Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria","volume":"36","author":"Y Fujii","year":"2014","journal-title":"Brain Dev"},{"issue":"11","key":"ref18","doi-asserted-by":"crossref","first-page":"3194","DOI":"10.1093\/brain\/awq259","article-title":"GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex","volume":"133","author":"N Bahi-Buisson","year":"2010","journal-title":"Brain"},{"issue":"06","key":"ref19","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1124\/mol.63.6.1256","article-title":"The G-protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups, and fingerprints","volume":"63","author":"R Fredriksson","year":"2003","journal-title":"Mol Pharmacol"},{"issue":"10","key":"ref20","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1007\/s00251-003-0625-2","article-title":"The EGF-TM7 family: a postgenomic view","volume":"55","author":"M J Kwakkenbos","year":"2004","journal-title":"Immunogenetics"},{"issue":"03","key":"ref21","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1006\/geno.1998.5644","article-title":"GPR56, a novel secretin-like human G-protein-coupled receptor gene","volume":"55","author":"M Liu","year":"1999","journal-title":"Genomics"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S0014-5793(99)00230-6","article-title":"TM7XN1, a novel human EGF-TM7-like cDNA, detected with mRNA differential display using human melanoma cell lines with different metastatic potential","volume":"446","author":"A J Zendman","year":"1999","journal-title":"FEBS Lett"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1714716.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:58Z","timestamp":1758138358000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1714716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,29]]},"references-count":22,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2022,2,15]]},"published-print":{"date-parts":[[2022,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1714716","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2020,7,29]]}}}