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dc.contributor.authorAlfadhel, Majid
dc.contributor.authorNashabat, Marwan
dc.contributor.authorAl Qahtani, Hanan
dc.contributor.authorAlfares, Ahmed
dc.contributor.authorAl Mutairi, Fuad
dc.contributor.authorAl Shaalan, Hesham
dc.contributor.authorDouglas, Ganka V.
dc.contributor.authorWierenga, Klaas
dc.contributor.authorJuusola, Jane
dc.contributor.authorAlrifai, Muhammad Talal
dc.contributor.authorArold, Stefan T.
dc.contributor.authorAlkuraya, Fowzan
dc.contributor.authorAbu Ali, Qais
dc.date.accessioned2021-07-06T11:58:42Z
dc.date.available2021-07-06T11:58:42Z
dc.date.issued2016
dc.identifier.citationAlfadhel, M., Nashabat, M., Qahtani, H. A., Alfares, A., Mutairi, F. A., Shaalan, H. A., … Ali, Q. A. (2016). Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Human Genetics, 135(11), 1263–1268. doi:10.1007/s00439-016-1719-x
dc.identifier.issn1432-1203
dc.identifier.issn0340-6717
dc.identifier.pmid27481395
dc.identifier.doi10.1007/s00439-016-1719-x
dc.identifier.urihttp://hdl.handle.net/10754/670030
dc.description.abstractGlycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH). In this report, we describe a consanguineous family with one child who presented with NKH, but harbored no pathogenic variants in any of the three genes linked to this condition. Whole-exome sequencing revealed a novel homozygous missense variant in exon 9 of SLC6A9 NM_201649.3: c.1219 A>G (p.Ser407Gly) that segregates with the disease within the family. This variant replaces the highly conserved S407 in the ion-binding site of this glycine transporter and is predicted to disrupt its function. In murine model, knockout of Slc6a9 is associated with equivalent phenotype of NKH, namely respiratory distress and hypotonia. This is the first demonstration that mutation of the glycine transporter can be associated with NKH in humans.
dc.description.sponsorshipWe wish to thank the family of the patient for their enthusiastic participation. The research by STA reported in this publication was supported by funding from the King Abdullah University of Science and Technology (KAUST).
dc.publisherSpringer Science and Business Media LLC
dc.relation.urlhttp://link.springer.com/10.1007/s00439-016-1719-x
dc.rightsThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0
dc.titleMutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
dc.typeArticle
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.contributor.departmentBioscience Program
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.identifier.journalHUMAN GENETICS
dc.identifier.pmcidPMC5052303
dc.identifier.wosutWOS:000385345000006
dc.eprint.versionPublisher's Version/PDF
dc.contributor.institutionDivision of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, PO Box 22490, Riyadh, 11426, Saudi Arabia
dc.contributor.institutionMedical Imaging Department, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, Riyadh, Saudi Arabia
dc.contributor.institutionDepartment of Pediatrics, College of Medicine, Qassim University, Almulyda, Saudi Arabia
dc.contributor.institutionGeneDx, Gaithersburg, MD, 20877, United States
dc.contributor.institutionDepartment of Pediatrics, Section of Genetics, The University of Oklahoma Health Sciences Center (OUHSC), Oklahoma City, OK, United States
dc.contributor.institutionNeurology Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), King Abdulaziz Medical City, Riyadh, Saudi Arabia
dc.contributor.institutionDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
dc.contributor.institutionDepartment of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
dc.identifier.volume135
dc.identifier.issue11
dc.identifier.pages1263-1268
kaust.personArold, Stefan T.
dc.identifier.eid2-s2.0-84980439066
refterms.dateFOA2021-07-06T11:59:33Z


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This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Except where otherwise noted, this item's license is described as This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.