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dc.contributor.authorMonies, Dorota
dc.contributor.authorMaddirevula, Sateesh
dc.contributor.authorKurdi, Wesam
dc.contributor.authorAlanazy, Mohammed H.
dc.contributor.authorAlkhalidi, Hisham
dc.contributor.authorAl-Owain, Mohammed
dc.contributor.authorSulaiman, Raashda A.
dc.contributor.authorFaqeih, Eissa
dc.contributor.authorGoljan, Ewa
dc.contributor.authorIbrahim, Niema
dc.contributor.authorAbdulwahab, Firdous
dc.contributor.authorHashem, Mais
dc.contributor.authorAbouelhoda, Mohamed
dc.contributor.authorShaheen, Ranad
dc.contributor.authorArold, Stefan T.
dc.contributor.authorAlkuraya, Fowzan S.
dc.date.accessioned2017-05-31T11:23:06Z
dc.date.available2017-05-31T11:23:06Z
dc.date.issued2017-04-06
dc.identifier.citationMonies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, et al. (2017) Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. Genetics in Medicine. Available: http://dx.doi.org/10.1038/gim.2017.22.
dc.identifier.issn1098-3600
dc.identifier.issn1530-0366
dc.identifier.doi10.1038/gim.2017.22
dc.identifier.urihttp://hdl.handle.net/10754/623796
dc.description.abstractThe purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can expand our understanding of the medical relevance of these genes both phenotypically and mechanistically. The Saudi population is enriched for autozygosity, which enhances the homozygous occurrence of alleles, including pathogenic alleles in genes that have been associated only with a dominant inheritance pattern.Exome sequencing of patients from consanguineous families with likely recessive phenotypes was performed. In one family, the genotype of the deceased children was inferred from their parents due to lack of available samples.We describe the identification of 11 recessive variants (5 of which are reported here for the first time) in 11 genes for which only dominant disease or risk alleles have been reported. The observed phenotypes for these recessive variants were novel (e.g., FBN2-related myopathy and CSF1R-related brain malformation and osteopetrosis), typical (e.g., ACTG2-related visceral myopathy), or an apparently healthy state (e.g., PDE11A), consistent with the corresponding mouse knockout phenotypes.Our results show that, in the era of genomic sequencing and
dc.publisherSpringer Nature
dc.relation.urlhttp://www.nature.com/gim/journal/vaop/ncurrent/full/gim201722a.html
dc.titleAutozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
dc.typeArticle
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.identifier.journalGenetics in Medicine
dc.contributor.institutionSaudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Obstetrics and Gynecology, King Faisal Specialist Hospital, Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Internal Medicine, King Saud University Medical City and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Pathology, King Saud University Medical City and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
kaust.personArold, Stefan T.


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