The characterization of Lowe Syndrome in a South African cohort

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dc.contributor.advisorSpencer, Careni
dc.contributor.advisorAgenbag, Gloudi
dc.contributor.authorSulaiman-Baradien, Rizqa
dc.date.accessioned2021-09-22T13:52:05Z
dc.date.available2021-09-22T13:52:05Z
dc.date.issued2020
dc.date.updated2021-09-22T13:51:22Z
dc.description.abstractOculocerebrorenal or Lowe Syndrome (OMIM #309000) is an X-linked recessive condition characterized by a triad of congenital cataracts, proximal renal tubular dysfunction, and variable central nervous system involvement. Nearly all affected boys will be hemizygous for a pathogenic variant in the OCRL (NM_000276.4 c.2615delC) gene. We present a clinical and molecular characterization of an extended multiplex family of three affected boys with Lowe Syndrome and describe a novel variant, predicted to be pathogenic, in the OCRL gene. This is to the best of our knowledge the first description of its kind in South African patients and future research into more families with Lowe syndrome will be beneficial.
dc.identifier.apacitationSulaiman-Baradien, R. (2020). <i>The characterization of Lowe Syndrome in a South African cohort</i>. (). ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences. Retrieved from http://hdl.handle.net/11427/33995en_ZA
dc.identifier.chicagocitationSulaiman-Baradien, Rizqa. <i>"The characterization of Lowe Syndrome in a South African cohort."</i> ., ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences, 2020. http://hdl.handle.net/11427/33995en_ZA
dc.identifier.citationSulaiman-Baradien, R. 2020. The characterization of Lowe Syndrome in a South African cohort. . ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences. http://hdl.handle.net/11427/33995en_ZA
dc.identifier.ris TY - Master Thesis AU - Sulaiman-Baradien, Rizqa AB - Oculocerebrorenal or Lowe Syndrome (OMIM #309000) is an X-linked recessive condition characterized by a triad of congenital cataracts, proximal renal tubular dysfunction, and variable central nervous system involvement. Nearly all affected boys will be hemizygous for a pathogenic variant in the OCRL (NM_000276.4 c.2615delC) gene. We present a clinical and molecular characterization of an extended multiplex family of three affected boys with Lowe Syndrome and describe a novel variant, predicted to be pathogenic, in the OCRL gene. This is to the best of our knowledge the first description of its kind in South African patients and future research into more families with Lowe syndrome will be beneficial. DA - 2020 DB - OpenUCT DP - University of Cape Town KW - Clinical Laboratory Sciences LK - https://open.uct.ac.za PY - 2020 T1 - The characterization of Lowe Syndrome in a South African cohort TI - The characterization of Lowe Syndrome in a South African cohort UR - http://hdl.handle.net/11427/33995 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/33995
dc.identifier.vancouvercitationSulaiman-Baradien R. The characterization of Lowe Syndrome in a South African cohort. []. ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences, 2020 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/33995en_ZA
dc.language.rfc3066eng
dc.publisher.departmentDepartment of Clinical Laboratory Sciences
dc.publisher.facultyFaculty of Health Sciences
dc.subjectClinical Laboratory Sciences
dc.titleThe characterization of Lowe Syndrome in a South African cohort
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationlevelMMed
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