{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:25:06Z","timestamp":1790648706234,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T00:00:00Z","timestamp":1558569600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81701128"],"award-info":[{"award-number":["81701128"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2016A030313500"],"award-info":[{"award-number":["2016A030313500"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Here we describe the second case of primary microcephaly caused by a novel homozygous splice\u2010site variant at the\n                    <jats:italic>NCAPD2<\/jats:italic>\n                    gene. The proband was born with microcephaly, and developed intellectual disability. Whole exome sequencing identified a canonical splice\u2010site variant, c.3477+2T&gt;C, at the\n                    <jats:italic>NCAPD2<\/jats:italic>\n                    gene. Sanger sequencing showed that the proband and her sibling, a symptomatic fetus, carried a homozygous c.3477+2T&gt;C variant, while the unaffected parents were heterozygous and her younger brother had wild\u2010type alleles. To date, only one case of primary microcephaly with a homozygous splice\u2010site pathogenic variant at the\n                    <jats:italic>NCAPD2<\/jats:italic>\n                    gene has been reported. Our study of two siblings provides additional evidence that\n                    <jats:italic>NCAPD2<\/jats:italic>\n                    is a causative gene of primary microcephaly. This finding adds new knowledge in the etiology of microcephaly and contributes to more accurate counseling of affected families.\n                  <\/jats:p>","DOI":"10.1111\/cge.13559","type":"journal-article","created":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T15:57:35Z","timestamp":1557158255000},"page":"98-101","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel homozygous splice\u2010site variant of\n                    <i>NCAPD2<\/i>\n                    gene identified in two siblings with primary microcephaly: The second case report"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8974-357X","authenticated-orcid":false,"given":"Yunting","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5954-1803","authenticated-orcid":false,"given":"Chunhua","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhikun","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruizhu","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4330-5694","authenticated-orcid":false,"given":"Li","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1601448"},{"key":"e_1_2_6_3_1","article-title":"Molecular genetics of human primary microcephaly: an overview","volume":"8","author":"Faheem M","year":"2015","journal-title":"BMC Med 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Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13559","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13559","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13559","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T09:50:29Z","timestamp":1694339429000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13559"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,23]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["10.1111\/cge.13559"],"URL":"https:\/\/doi.org\/10.1111\/cge.13559","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13559\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13559\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13559\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13559\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13559\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13559\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,23]]},"assertion":[{"value":"2019-01-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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