{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:21:31Z","timestamp":1792203691733,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T00:00:00Z","timestamp":1702425600000},"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":["32270707"],"award-info":[{"award-number":["32270707"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFF1200900"],"award-info":[{"award-number":["2021YFF1200900"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFF1200903"],"award-info":[{"award-number":["2021YFF1200903"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Intellectual disability (ID) is a large group of neurodevelopmental disorders characterized by a congenital limitation in intellectual functioning (reasoning, learning, and problem solving), adaptive behavior (conceptual, social, and practical skills), originated at birth and manifested before the age of 18. By whole exome sequencing of five consanguineous Pakistani families presenting hallmark features of ID, global developmental delay, aggressive and self\u2010injurious behaviors, microcephaly, febrile seizures and facial dysmorphic features, we identified three novel homozygous missense variants (NM_024298.5: c.588G\u2009&gt;\u2009T; p.Trp196Cys, c.736\u2009T\u2009&gt;\u2009C; p.Tyr246His and c.524A\u2009&gt;\u2009C; p. Asp175Ala) and one rare homozygous in\u2010frame deletion variant (c.758_778del;p.Glu253_Ala259del) in\n                    <jats:italic>membrane\u2010bound O\u2010acyltransferase family member 7<\/jats:italic>\n                    (\n                    <jats:italic>MBOAT7)<\/jats:italic>\n                    gene previously associated with autosomal recessive neurodevelopmental disorder. The segregation of the variants was validated by Sanger sequencing in all family members. In silico homology modeling of wild\u2010type and mutated proteins revealed substantial changes in the structure of both proteins, indicating a possible effect on function. The identification and validation of new pathogenic\n                    <jats:italic>MBOAT7<\/jats:italic>\n                    variants in five cases of autosomal recessive ID further highlight the importance of this genes in proper brain function and development.\n                  <\/jats:p>","DOI":"10.1111\/cge.14469","type":"journal-article","created":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T05:53:41Z","timestamp":1702446821000},"page":"423-429","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Exome sequencing identifies homozygous variants in\n                    <i>MBOAT7<\/i>\n                    associated with neurodevelopmental disorder"],"prefix":"10.1111","volume":"105","author":[{"given":"Gul","family":"Nazmina","sequence":"first","affiliation":[{"name":"Department of Zoology University of Peshawar  Peshawar Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amjad","family":"Khan","sequence":"additional","affiliation":[{"name":"Faculty of Biological Sciences, Department of Zoology University of Lakki Marwat  Khyber Pakhtunkhwa Pakistan"},{"name":"Institute for Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Alexander von Humboldt Fellowship Foundation  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4077-1667","authenticated-orcid":false,"given":"Jiuhong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Guangzhou National Laboratory Guangzhou International Bio Island  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhichao","family":"Miao","sequence":"additional","affiliation":[{"name":"GMU\u2010GIBH Joint School of Life Sciences, The Guangdong\u2010Hong Kong\u2010Macau Joint Laboratory for Cell Fate Regulation and Diseases, Guangzhou National Laboratory Guangzhou Medical University  Guangzhou China"},{"name":"Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine Translational Research Institute of Brain and Brain\u2010Like Intelligence, Shanghai Fourth People's Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahid Niaz","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Zoology Kohat University of Science and Technology  Kohat Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Ismail","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Zoology Islamia College University Peshawar  Peshawar Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul Haleem","family":"Shah","sequence":"additional","affiliation":[{"name":"Institute of Biological sciences Gomal University  Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayesha Haleem","family":"Shah","sequence":"additional","affiliation":[{"name":"Institute of Biological sciences Gomal University  Dera Ismail Khan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Khisroon","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Peshawar  Peshawar Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312\u2010015\u20100589\u2010y"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.2005.tb01981.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2136"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.585053"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11091021"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010019\u20100907\u20107"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gastha.2023.02.004"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e12\u201009\u20100673"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14010048"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.836954"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.07.019"}],"container-title":["Clinical 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