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  NDST1 missense mutations in autosomal recessive intellectual disability

Reuter, M. S., Musante, L., Hu, H., Diederich, S., Sticht, H., Ekici, A. B., et al. (2014). NDST1 missense mutations in autosomal recessive intellectual disability. American Journal of Medical Genetics Part A, 164A(11), 2753-2763. doi:10.1002/ajmg.a.36723.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-C0DE-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-C0DF-B
Genre: Journal Article

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© 2014 Wiley Periodicals, Inc.
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 Creators:
Reuter, M. S., Author
Musante, L.1, Author              
Hu, H.2, Author              
Diederich, S., Author
Sticht, H., Author
Ekici, A. B., Author
Uebe, S., Author
Wienker, T. F.3, Author              
Bartsch, O., Author
Zechner, U., Author
Oppitz, C., Author
Keleman, K., Author
Jamra, R. A., Author
Najmabadi, H., Author
Schweiger, S., Author
Reis, A., Author
Kahrizi, K., Author
Affiliations:
1Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, 1479643              

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 Abstract: 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 conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in the clinical features, including both demonstrated and apparent intellectual disability, muscular hypotonia, epilepsy, and postnatal growth deficiency. Furthermore, in Drosophila, knockdown of sulfateless, the NDST ortholog, impairs long-term memory, highlighting its function in cognition. Our data confirm NDST1 mutations as a cause of autosomal recessive intellectual disability with a distinctive phenotype, and support an important function of NDST1 in human development.

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Language(s): eng - English
 Dates: 2014-08-142014-11
 Publication Status: Published in print
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 Rev. Method: Peer
 Identifiers: DOI: 10.1002/ajmg.a.36723
ISSN: 1552-4833 (Electronic)1552-4825 (Print)
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Title: American Journal of Medical Genetics Part A
Source Genre: Journal
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Publ. Info: Hoboken, N.J. : Wiley-Liss
Pages: - Volume / Issue: 164A (11) Sequence Number: - Start / End Page: 2753 - 2763 Identifier: ISSN: 1552-4825
CoNE: https://pure.mpg.de/cone/journals/resource/954925476465