{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:49:14Z","timestamp":1786978154606,"version":"build-2736575974"},"reference-count":36,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T00:00:00Z","timestamp":1601337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Congenital muscular dystrophy (CMD) refers to hypotonia and delayed motor development that is manifested at or near the birth. Additional presentations have been observed in CMD syndromes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Thorough clinical examinations were performed on two unrelated Iranian families with typical symptoms of CMD and uncommon features such as intellectual disability and nephrolithiasis. The genomic DNA of probands were subjected to whole exome sequencing. Following the detection of candidate variants with a bioinformatic pipeline, the familial co\u2010segregation analysis was carried out using polymerase chain reaction\u2010based Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified a missense homozygous variant in the fukutin\u2010related protein (\n                      <jats:italic>FKRP<\/jats:italic>\n                      ) gene (c.968G&gt;A, p.Arg323His) related to CMD\u2010dystroglycanopathy type B5 (MDDGB5) and a frameshift homozygous variant in the selenoprotein N (\n                      <jats:italic>SELENON<\/jats:italic>\n                      ) gene (c.1446delC, p.Asn483Thrfs*11) associated with congenital rigid\u2010spine muscular dystrophy 1 (RSMD1), which were completely segregated with the phenotypes in the families. These variants were not found in either the 1000 Genomes Project or the Exome Aggregation Consortium. The present study provides the first report of these homozygous sequence variants in Iran. Moreover, our study was the first observation of nephrolithiasis in FKRP\u2010related dystroglycanopathy and intellectual disability in SELENON\u2010related myopathies. Based on\n                      <jats:italic>in silico<\/jats:italic>\n                      studies and molecular docking, these variations induced pathogenic effects on the proteins.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our findings extend the genetic database of Iranian patients with CMD and, in general, the phenotypical spectrum of syndromic CMD. It is recommended to consider these variants for a more accurate clinical\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/www.powerthesaurus.org\/interpretation\/synonyms\">interpretation<\/jats:ext-link>\n                      , prenatal diagnosis and genetic counseling in families with a history of CMD, especially in those combined with cognitive impairments or renal dysfunctions.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jgm.3265","type":"journal-article","created":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T03:32:57Z","timestamp":1598844777000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The first report of two homozygous sequence variants in\n                    <i>FKRP<\/i>\n                    and\n                    <i>SELENON<\/i>\n                    genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes"],"prefix":"10.1002","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6255-5376","authenticated-orcid":false,"given":"Malihe","family":"Mohamadian","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine Birjand University of Medical Sciences  Birjand Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3100-6344","authenticated-orcid":false,"given":"Mohsen","family":"Naseri","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Research Center Birjand University of Medical Sciences  Birjand Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7828-6465","authenticated-orcid":false,"given":"Pegah","family":"Ghandil","sequence":"additional","affiliation":[{"name":"Diabetes Research Center, Health Research Institute Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"},{"name":"Department of Medical Genetics, School of Medicine Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afsane","family":"Bahrami","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Research Center Birjand University of Medical Sciences  Birjand Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Akbar","family":"Momen","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Golestan Medical, Educational, and Research Center Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2009000100038"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2009000200035"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2018.01.004"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2013.04.004"},{"key":"e_1_2_9_6_1","volume-title":"GeneReviews\u00ae[Internet]","author":"Sparks SE","year":"1993"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.12.011"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11534"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.94"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20110"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-003-0165-9"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.7196\/SAMJ.2017.v107i1.10907"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31821f467c"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng713"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0806015105"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21644"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.redox.2019.101176"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.29252\/.22.6.408"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0743-1"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.019"},{"key":"e_1_2_9_21_1","first-page":"15","article-title":"Ullrich congenital muscular dystrophy (UCMD): clinical and genetic correlations","volume":"7","author":"Bozorgmehr B","year":"2013","journal-title":"Iran J Child Neurol"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-140038"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000315"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.01.005"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10559"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-018-2713-1"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-015-2685-3"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.14419\/ijbas.v4i2.4123"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2005.08.003"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-170255"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-05990-z"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0094-x"},{"key":"e_1_2_9_34_1","first-page":"59","article-title":"Walker\u2010Warburg syndrome: a case with multiple uncommon features","volume":"11","author":"Bedri HA","year":"2011","journal-title":"Sudanese J Paediatr"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38393"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2011.03.011"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.013953"}],"container-title":["The Journal of Gene Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgm.3265","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jgm.3265","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgm.3265","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T01:33:45Z","timestamp":1693791225000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgm.3265"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,29]]},"references-count":36,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/jgm.3265"],"URL":"https:\/\/doi.org\/10.1002\/jgm.3265","archive":["Portico"],"relation":{},"ISSN":["1099-498X","1521-2254"],"issn-type":[{"value":"1099-498X","type":"print"},{"value":"1521-2254","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,29]]},"assertion":[{"value":"2020-01-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e3265"}}