Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

@article{Cabral2012WholeexomeSI,
  title={Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.},
  author={R. M. Cabral and Mazen Kurban and Muhammad Wajid and Yutaka Shimomura and L. I. Petukhova and Angela M. Christiano},
  journal={Genomics},
  year={2012},
  volume={99 4},
  pages={
          202-8
        }
}
Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis. Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within the CHST8 gene, in a large consanguineous family with non-inflammatory PSS type A. CHST8 encodes a Golgi transmembrane N-acetylgalactosamine-4-O-sulfotransferase (GalNAc4-ST1), which we show by… CONTINUE READING

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