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A new pedigree with recessive CHED mapping to the CHED2 locus on 20p13
  1. MOIN D MOHAMED
  1. MARTIN McKIBBIN
  1. HUSSEIN JAFRI,
  2. YASMIN RAASHED
  1. C GEOFFREY WOODS,
  2. CHRIS F INGLEHEARN
  1. Molecular Medicine Unit, University of Leeds and Department of Ophthalmology, St James's University Hospital, Leeds
  2. Department of Ophthalmology, St James's University Hospital, Leeds
  3. Department of Obstetrics and Gynaecology, Fatima Jinnah Medical College, Lahore, Pakistan
  4. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds
  1. cinglehe{at}hgmp.mrc.ac.uk

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Editor,—Congenital hereditary endothelial dystrophy (CHED) and posterior polymorphous corneal dystrophy (PPCD) are phenotypically distinct diseases of the corneal endothelium. Linkage analysis has mapped a locus for autosomal dominant PPCD to chromosome 20p11.1 Subsequently, other researchers placed a locus for autosomal dominant CHED (designated CHED1 by the human genome mapping workshop) in an overlapping genetic interval,2 suggesting that these two disorders may be allelic variants of the same defective gene.

However, CHED is more commonly inherited as an autosomal recessive (AR) disease,3 and linkage analysis in a large consanguineous recessive Saudi Arabian pedigree excluded CHED1 as the causative locus.4 Genetic heterogeneity in this condition was further confirmed by linkage analysis in a large consanguineous Irish pedigree5 in which a second CHED genetic locus (CHED2) was subsequently localised more distally at 20p13.6

We now present a Pakistani pedigree with …

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