{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T08:07:33Z","timestamp":1777190853390,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T00:00:00Z","timestamp":1513900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Primary microcephaly type 3 is a genetically heterogeneous condition caused by a homozygous or compound heterozygous mutation in CDK5 regulatory subunit associated protein 2 <jats:italic>(CDK5RAP2)<\/jats:italic> and characterized by reduced head circumference (&lt;5th percentile) with additional phenotypes varying from pigmentary abnormalities to sensorineural hearing loss. Until now, congenital cataracts have not been reported in patients with primary microcephaly type 3.<\/jats:p><\/jats:sec><jats:sec><jats:title>Clinical report<\/jats:title><jats:p>We report multiple affected family members from a consanguineous Saudi family with microcephaly and congenital cataracts. We utilized a next\u2010generation sequencing\u2013based microcephaly gene panel that revealed a <jats:italic>CDK5RAP2<\/jats:italic> variant (c.4055A&gt;G; p.Glu1352Gly) as the most plausible candidate for the likely etiology in this family. Then we performed family segregation analysis using Sanger sequencing, autozygosity mapping, and whole exome sequencing, all of which revealed no other possible disease\u2010causing variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Here we report on a new clinical manifestation of <jats:italic>CDK5RAP2<\/jats:italic> and expand the phenotype of primary microcephaly type 3.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12232","type":"journal-article","created":{"date-parts":[[2017,12,24]],"date-time":"2017-12-24T08:43:01Z","timestamp":1514104981000},"page":"165-170","source":"Crossref","is-referenced-by-count":14,"title":["A new association between <i>CDK5RAP2<\/i> microcephaly and congenital cataracts"],"prefix":"10.1111","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4222-0952","authenticated-orcid":false,"given":"Ahmed","family":"Alfares","sequence":"first","affiliation":[{"name":"Department of Pediatrics College of Medicine Qassim University  Qassim Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibtihal","family":"Alhufayti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics College of Medicine Qassim University  Qassim Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamia","family":"Alsubaie","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics King Abdulaziz Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Alowain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rawan","family":"Almass","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics King Abdulaziz Medical City  Riyadh Saudi Arabia"},{"name":"King Saud bin Abdulaziz University for Health Sciences King Abdulaziz Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Namik","family":"Kaya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wafaa","family":"Eyaid","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics King Abdulaziz Medical City  Riyadh Saudi Arabia"},{"name":"King Saud bin Abdulaziz University for Health Sciences King Abdulaziz Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.04.002"},{"key":"e_1_2_7_3_1","first-page":"42","article-title":"The genetics and sub\u2010classification of microcephaly","volume":"4","author":"Cowie V.","year":"1960","journal-title":"Journal of Mental Deficiency Research"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80714-3"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-8-58"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.156"},{"key":"e_1_2_7_7_1","first-page":"273","article-title":"Prediction of the coding sequences of unidentified human genes. 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