{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T11:19:46Z","timestamp":1720696786304},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T00:00:00Z","timestamp":1328227200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a consanguineous couple with two affected sons who presented with primary microcephaly and moderate to severe intellectual disabilities. A SNP array uncovered two overlapping regions of copy\u2010neutral absence of heterozygosity (AOH) in both sibs. This led to sequencing of <jats:italic>WDR62<\/jats:italic>, a gene that codes for a spindle pole protein recently identified as a cause of primary microcephaly. A homozygous missense mutation in <jats:italic>WDR62<\/jats:italic>, p.E400K, was found in both boys and segregated with the condition in this family. <jats:italic>WDR62<\/jats:italic> is one of seven genes responsible for autosomal recessive primary microcephaly (MCPH), and appears to be one of the most frequently involved in MCPH following <jats:italic>ASPM<\/jats:italic>. Studies of <jats:italic>ASPM<\/jats:italic> and <jats:italic>WDR62<\/jats:italic> should perhaps be pursued in all cases of primary microcephaly with or without gross brain malformations. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34417","type":"journal-article","created":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T18:34:26Z","timestamp":1328294066000},"page":"622-625","source":"Crossref","is-referenced-by-count":12,"title":["<i>WDR62<\/i> missense mutation in a consanguineous family with primary microcephaly"],"prefix":"10.1002","volume":"158A","author":[{"given":"Carlos A.","family":"Bacino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis A.","family":"Arriola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Wiszniewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Penelope E.","family":"Bonnen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,2,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01686.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09327"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng995"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1539"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3577405"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2958.2003.03412.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.8.3.175"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.003"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0017-1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/341283"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302640"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/316909"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.017"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.540"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/302777"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.682"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b8799a"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/316910"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200385"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.013"},{"key":"e_1_2_6_23_1","doi-asserted-by":"crossref","unstructured":"SiepelA PollardKS HausslerD.2006.New methods for detecting lineage\u2010specific selection. 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