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.
| Identifer | oai:union.ndltd.org:netd.ac.za/oai:union.ndltd.org:uct/oai:localhost:11427/33995 |
| Date | 22 September 2021 |
| Creators | Sulaiman-Baradien, Rizqa |
| Contributors | Spencer, Careni, Agenbag, Gloudi |
| Publisher | Faculty of Health Sciences, Department of Clinical Laboratory Sciences |
| Source Sets | South African National ETD Portal |
| Language | English |
| Detected Language | English |
| Type | Master Thesis, Masters, MMed |
| Format | application/pdf |
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