NDST1 missense mutations in autosomal recessive intellectual disability.

@article{Reuter2014NDST1MM,
  title={NDST1 missense mutations in autosomal recessive intellectual disability.},
  author={Miriam S Reuter and Luciana Musante and Hao Hu and Stefan Diederich and Heinrich Sticht and Arif B. Ekici and Steffen Uebe and Thomas F. Wienker and Oliver Bartsch and Ulrich Zechner and Cornelia Oppitz and Krystyna Keleman and Rami Jamra and Hossein Najmabadi and Susann Schweiger and Andr{\'e} Reis and Kimia Kahrizi},
  journal={American journal of medical genetics. Part A},
  year={2014},
  volume={164A 11},
  pages={2753-63}
}
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of… CONTINUE READING
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