{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T17:59:46Z","timestamp":1785434386770,"version":"3.56.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T00:00:00Z","timestamp":1573603200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically heterogeneous group of disorders caused by biallelic mutations in peroxin (<jats:italic>PEX<\/jats:italic>) genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methodology\/Laboratory Examination<\/jats:title><jats:p>DNA of the family was extracted and sequenced by whole exome sequencing. The results were validated with Sanger sequencing analyzed with Bioinformatics software.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sequencing result showed that the patient has carried a homozygous variant of c.277C&gt;T of the <jats:italic>PEX11B<\/jats:italic> gene. The patient's brother has carried a homozygous variant of c.277C&gt;T of the <jats:italic>PEX11B<\/jats:italic> gene and their variants of c.277C&gt;T of the <jats:italic>PEX11B<\/jats:italic> gene were inherited, respectively, from his mother and father.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion and Conclusion<\/jats:title><jats:p>The homozygous variant of c.277C&gt;T of the <jats:italic>PEX11B<\/jats:italic> gene probably underlie the disease in this child and her brother.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1042","type":"journal-article","created":{"date-parts":[[2019,11,14]],"date-time":"2019-11-14T04:02:29Z","timestamp":1573704149000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Variant analysis of <i>PEX11B<\/i> gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1419-4806","authenticated-orcid":false,"given":"Yuan","family":"Tian","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory The Third Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linlin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The Third Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0166-6528","authenticated-orcid":false,"given":"Ying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The Third Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinshuang","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The Third Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyang","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The Third Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaqing","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The Third Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liting","family":"Jia","sequence":"additional","affiliation":[{"name":"Screening Center The Third Affiliated Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,13]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.9684"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0053424"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100778"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-7059-y"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2015.06.035"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230404"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.12.4358-4365.2002"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M212031200"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.7796"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035490"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441598"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-012-1010-8"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.45.29607"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.09.010"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-21026"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.74.082803.133329"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.4.070802.110424"}],"container-title":["Molecular Genetics &amp; 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