Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

@article{Huppke2012MutationsIS,
  title={Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.},
  author={Peter Huppke and Cornelia M Brendel and Vera M. Kalscheuer and Georg Christoph Korenke and Iris Marquardt and Peter Freisinger and John Christodoulou and Merle Hillebrand and Gaele Pitelet and Callum Wilson and Ursula Gruber-Sedlmayr and Reinhard Ullmann and Stefan Haas and Orly Elpeleg and Gudrun Nuernberg and Peter N{\"u}rnberg and Shzeena Dad and Lisbeth Birk M\oller and Stephen G Kaler and Jutta Gaertner},
  journal={American journal of human genetics},
  year={2012},
  volume={90 1},
  pages={61-8}
}
Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts, hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among… CONTINUE READING
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