{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:09:18Z","timestamp":1790698158481,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"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":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Microcephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare and genetic disorder, which is mainly caused by mutations in the\n                    <jats:italic>CASK<\/jats:italic>\n                    gene. We described four variations in the\n                    <jats:italic>CASK<\/jats:italic>\n                    gene in Chinese female patients with MICPCH, who presented with microcephaly, developmental delay, and motor disorder. The\n                    <jats:italic>CASK<\/jats:italic>\n                    mutations were identified using NGS (the next\u2010generation sequencing), copy number variation sequencing. Two novel variations in the\n                    <jats:italic>CASK<\/jats:italic>\n                    gene were revealed including a frameshift mutation c.1000_1001insG (p.Asp334GlyfsTer32) and a nonsense mutation c.2110A\u00a0&gt;\u00a0T (p.Lys704Ter). Two other aberrations were c.316C\u00a0&gt;\u00a0T (p.Arg106Ter) and Xp11.4\u2010p11.3 (41,700,001\u201344,660,000)\u00a0\u00d7\u00a01 loss. We provided clinical manifestations and neuroimaging findings of the four patients. The genetic variation spectrum of MICPCH caused by\n                    <jats:italic>CASK<\/jats:italic>\n                    was updated. Furthermore, we expounded on the molecular mechanism of the disease and noticed that it was not possible to relate the magnitude of the genetic alteration to a particular phenotype.\n                  <\/jats:p>","DOI":"10.1002\/jdn.10100","type":"journal-article","created":{"date-parts":[[2021,2,25]],"date-time":"2021-02-25T02:43:15Z","timestamp":1614220995000},"page":"277-284","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the\n                    <i>CASK<\/i>\n                    gene were discovered in Chinese females"],"prefix":"10.1002","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4603-1035","authenticated-orcid":false,"given":"Jianhui","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children\u2019s Hospital Qingdao P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children\u2019s Hospital Qingdao P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiqiao","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Traditional Chinese Medicine Renji Hospital School of Medicine Shanghai Jiaotong University Shanghai P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6801-7576","authenticated-orcid":false,"given":"Qiuyan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children\u2019s Hospital Qingdao P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianrong","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; Rehabilitation Qingdao Women and Children\u2019s Hospital Qingdao P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wei","sequence":"additional","affiliation":[{"name":"Kangso Medical Inspection Co, Ltd. Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"issue":"5","key":"e_1_2_13_2_1","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1038\/ejhg.2009.220","article-title":"CASK mutations are frequent in males and cause X\u2010linked nystagmus and variable XLMR phenotypes","volume":"18","author":"Anna H.","year":"2010","journal-title":"European Journal of Human Genetics"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3200694"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40429"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-18"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200712094"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.142.1.129"},{"issue":"1","key":"e_1_2_13_8_1","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1186\/s13104-017-3065-z","article-title":"A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation","volume":"10","author":"DeLuca S. 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