{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:30:54Z","timestamp":1790973054124,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T00:00:00Z","timestamp":1563321600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The microtubule\u2010associated protein 1B (<jats:italic>MAP1B<\/jats:italic>) gene serves an important role in axonal growth and brain development. Its expression is known to be elevated in regions that retain high brain plasticity and is regulated by the fragile X mental retardation protein. <jats:italic>MAP1B<\/jats:italic> mutations have recently been associated with a phenotype including periventricular nodular heterotopia (PVNH), intellectual disability (ID), seizures, and dysmorphic features. We describe a child presenting with global developmental delays, ID, microcephaly, short stature, seizures, dysmorphic features, and prenatal alcohol exposure with a <jats:italic>de novo<\/jats:italic> nonsense <jats:italic>MAP1B<\/jats:italic> mutation (c.2035G&gt;T, p.Glu679X) detected on whole exome sequencing (WES). His brain MRI showed PVNH and dysgenesis of the corpus callosum. While significant prenatal alcohol exposure could have modified his phenotype, we believe that this patient presents with features that cannot be explained by fetal alcohol exposure alone. This is the first case report that describes dysmorphic features associated with <jats:italic>MAP1B<\/jats:italic> mutations in detail along with supporting pictures and review of previous reported phenotypes. This case not only highlights the value of WES as a screening tool for unrecognized syndromes, but also supports the need for a better description of the phenotype associated with newly detected genetic syndromes by molecular screening.<\/jats:p>","DOI":"10.1002\/ajmg.a.61280","type":"journal-article","created":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T04:20:33Z","timestamp":1563423633000},"page":"1703-1708","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<i>MAP1B<\/i> related syndrome: Case presentation and review of literature"],"prefix":"10.1002","volume":"179","author":[{"given":"Diana M.","family":"Julca","sequence":"first","affiliation":[{"name":"Rare Disease Institute Children's National Health System  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jullianne","family":"Diaz","sequence":"additional","affiliation":[{"name":"Rare Disease Institute Children's National Health System  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth","family":"Berger","sequence":"additional","affiliation":[{"name":"Rare Disease Institute Children's National Health System  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1852-2849","authenticated-orcid":false,"given":"Eyby","family":"Leon","sequence":"additional","affiliation":[{"name":"Rare Disease Institute Children's National Health System  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws019"},{"issue":"30069","key":"e_1_2_6_3_1","first-page":"1","article-title":"Microtubule\u2010associated protein 1B (MAP1B)\u2010deficient neurons show structural presynaptic deficiencies in vitro and altered presynaptic physiology","volume":"6","author":"Bodaleo F. J.","year":"2016","journal-title":"Scientific Reports"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.030"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007281"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2009.07.006"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2016.01.021"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1384"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0123106"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0404995101"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.6.1169"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-05595-6"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61280","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61280","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T20:51:02Z","timestamp":1694292662000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,17]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/ajmg.a.61280"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61280","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,17]]},"assertion":[{"value":"2019-02-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}