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The characterization of Lowe Syndrome in a South African cohort
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...
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| Format: | Thesis |
| Language: | English |
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Department of Clinical Laboratory Sciences
2021
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| _version_ | 1867613796747444224 |
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| access_status_str | Open Access |
| author | Sulaiman-Baradien, Rizqa |
| author2 | Spencer, Careni |
| author_browse | Spencer, Careni Sulaiman-Baradien, Rizqa |
| author_facet | Spencer, Careni Sulaiman-Baradien, Rizqa |
| author_sort | Sulaiman-Baradien, Rizqa |
| collection | Thesis |
| description | 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. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/33995 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:41:50.924Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | Department of Clinical Laboratory Sciences |
| publisherStr | Department of Clinical Laboratory Sciences |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/33995 The characterization of Lowe Syndrome in a South African cohort Sulaiman-Baradien, Rizqa Spencer, Careni Agenbag, Gloudi Clinical Laboratory Sciences 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. 2021-09-22T13:52:05Z 2021-09-22T13:52:05Z 2020 2021-09-22T13:51:22Z Master Thesis Masters MMed http://hdl.handle.net/11427/33995 eng application/pdf Department of Clinical Laboratory Sciences Faculty of Health Sciences |
| spellingShingle | Clinical Laboratory Sciences Sulaiman-Baradien, Rizqa The characterization of Lowe Syndrome in a South African cohort |
| thesis_degree_str | Master's |
| title | The characterization of Lowe Syndrome in a South African cohort |
| title_full | The characterization of Lowe Syndrome in a South African cohort |
| title_fullStr | The characterization of Lowe Syndrome in a South African cohort |
| title_full_unstemmed | The characterization of Lowe Syndrome in a South African cohort |
| title_short | The characterization of Lowe Syndrome in a South African cohort |
| title_sort | characterization of lowe syndrome in a south african cohort |
| topic | Clinical Laboratory Sciences |
| url | http://hdl.handle.net/11427/33995 |
| work_keys_str_mv | AT sulaimanbaradienrizqa thecharacterizationoflowesyndromeinasouthafricancohort AT sulaimanbaradienrizqa characterizationoflowesyndromeinasouthafricancohort |