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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 (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.

Identiferoai:union.ndltd.org:netd.ac.za/oai:union.ndltd.org:uct/oai:localhost:11427/33995
Date22 September 2021
CreatorsSulaiman-Baradien, Rizqa
ContributorsSpencer, Careni, Agenbag, Gloudi
PublisherFaculty of Health Sciences, Department of Clinical Laboratory Sciences
Source SetsSouth African National ETD Portal
LanguageEnglish
Detected LanguageEnglish
TypeMaster Thesis, Masters, MMed
Formatapplication/pdf

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