Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

  title={Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature},
  author={Rachel L. Taylor and Mark T. Handley and Sarah Waller and Christopher Campbell and J E Urquhart and Alison M. Meynert and Jamie M. Ellingford and D E Donnelly and Gisela Wilcox and I. Chris Lloyd and Helen R Mundy and David R. Fitzpatrick and Charu Deshpande and Jill Clayton-Smith and Graeme C. M. Black},
  journal={Investigative ophthalmology \& visual science},
  pages={594 - 603}
Purpose Peroxisomes perform complex metabolic and catabolic functions essential for normal growth and development. Mutations in 14 genes cause a spectrum of peroxisomal disease in humans. Most recently, PEX11B was associated with an atypical peroxisome biogenesis disorder (PBD) in a single individual. In this study, we identify further PEX11B cases and delineate associated phenotypes. Methods Probands from three families underwent next generation sequencing (NGS) for diagnosis of a multisystem… 

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