Article
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 2013
Wilson Valerie, Darlay Rebecca, Wong William, Wood Katrina M, McFarlane Jeannette, Schejbel Lone, Schmidt Ida M, Harris Claire L, Tellez James, Hunze Eva-Maria, Marchbank Kevin, Goodship Judith A, Goodship Timothy H J
Abstract excerpt
We report a male infant who presented at 8 months of age with atypical hemolytic uremic syndrome (aHUS) responsive to plasma therapy. Investigation showed him to have complement factor H (CFH) deficiency associated with a homozygous CFH mutation (c.2880delT [p.Phe960fs]). Mutation screening of the child's parents revealed that the father was heterozygous for this change but that it was not present in his mother....
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