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dc.contributor.authorAlsemari, Abdulaziz
dc.contributor.authorAl-Younes, Banan
dc.contributor.authorGoljan, Ewa
dc.contributor.authorJaroudi, Dyala
dc.contributor.authorBinHumaid, Faisal
dc.contributor.authorMeyer, Brian F.
dc.contributor.authorArold, Stefan T.
dc.contributor.authorMonies, Dorota
dc.date.accessioned2017-11-23T11:51:29Z
dc.date.available2017-11-23T11:51:29Z
dc.date.issued2017-11-14
dc.identifier.citationAlsemari A, Al-Younes B, Goljan E, Jaroudi D, BinHumaid F, et al. (2017) Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. Human Genomics 11. Available: http://dx.doi.org/10.1186/s40246-017-0124-4.
dc.identifier.issn1479-7364
dc.identifier.pmid29137650
dc.identifier.doi10.1186/s40246-017-0124-4
dc.identifier.urihttp://hdl.handle.net/10754/626203
dc.description.abstractMost mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency.A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic.These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.
dc.description.sponsorshipThis work was funded through grants from King Faisal Specialist Hospital and Research Centre (RAC 2140029) and King Abdulaziz City for Science and Technology (KACST#13-MED2056-20).
dc.publisherSpringer Nature
dc.relation.urlhttp://link.springer.com/article/10.1186/s40246-017-0124-4
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. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectMitochondrial
dc.subjectHypogonadism
dc.subjectVitamin D deficiency
dc.subjectDysmorphism
dc.subjectSyndromic
dc.subjectAngelman
dc.titleRecessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
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 Genomics
dc.eprint.versionPublisher's Version/PDF
dc.contributor.institutionSaudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
kaust.personArold, Stefan T.
refterms.dateFOA2018-06-13T14:33:18Z


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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. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
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. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.