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  Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Hu, H., Hübner, C., Lukacs, Z., Musante, L., Gill, E., Wienker, T. F., et al. (2017). Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). European journal of human genetics, 25(2), 253-256. doi:10.1038/ejhg.2016.149.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-BFB2-0 Version Permalink: http://hdl.handle.net/21.11116/0000-0000-BFB6-C
Genre: Journal Article

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 Creators:
Hu, H.1, Author
Hübner, C., Author
Lukacs, Z., Author
Musante, L.1, Author              
Gill, E., Author
Wienker, T. F.2, Author              
Ropers, H. H.1, Author              
Knierim, E., Author
Schuelke, M., Author
Affiliations:
1Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              
2Clinical Genetics (Thomas F. Wienker), Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385696              

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Free keywords: Acetyltransferases/*genetics Child Exome Female Genes, Recessive Homozygote Humans Kluver-Bucy Syndrome/complications/diagnosis/*genetics Male Mucopolysaccharidosis III/complications/diagnosis/*genetics Phenotype Siblings
 Abstract: Kluver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investigated two siblings with KBS from a consanguineous family by whole-exome sequencing and autozygosity mapping. We detected a homozygous variant in the heparan-alpha-glucosaminidase-N-acetyltransferase gene (HGSNAT; c.518G>A, p.(G173D), NCBI ClinVar RCV000239404.1), which segregated with the phenotype. Disease-causing variants in this gene are known to be associated with autosomal recessive Mucopolysaccharidosis type IIIC (MPSIIIC, Sanfilippo C). This lysosomal storage disease is due to deficiency of the acetyl-CoA:alpha-glucosaminidase-N-acetyltransferase, which was shown to be reduced in patient fibroblasts. Our report extends the phenotype associated with MPSIIIC. Besides MPSIIIA and MPSIIIB, due to variants in SGSH and NAGLU, this is the third subtype of Sanfilippo disease to be associated with KBS. MPSIII should be included in the differential diagnosis of young patients with KBS.

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Language(s): eng - English
 Dates: 2016-11-092017-02
 Publication Status: Published in print
 Pages: 4
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1038/ejhg.2016.149
ISSN: 1476-5438 (Electronic)1018-4813 (Print)
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Title: European journal of human genetics
  Other : Eur. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: Nature Publishing Group
Pages: - Volume / Issue: 25 (2) Sequence Number: - Start / End Page: 253 - 256 Identifier: ISSN: 1018-4813
CoNE: https://pure.mpg.de/cone/journals/resource/954925585277_1