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

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Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). / Hu, Hao; Hübner, Christoph; Lukacs, Zoltan; Musante, Luciana; Gill, Esther; Wienker, Thomas F; Ropers, Hans-Hilger; Knierim, Ellen; Schuelke, Markus.

In: EUR J HUM GENET, Vol. 25, No. 2, 02.2017, p. 253-256.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hu, H, Hübner, C, Lukacs, Z, Musante, L, Gill, E, Wienker, TF, Ropers, H-H, Knierim, E & Schuelke, M 2017, 'Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)', EUR J HUM GENET, vol. 25, no. 2, pp. 253-256. https://doi.org/10.1038/ejhg.2016.149

APA

Hu, H., Hübner, C., Lukacs, Z., Musante, L., Gill, E., Wienker, T. F., Ropers, H-H., Knierim, E., & Schuelke, M. (2017). Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). EUR J HUM GENET, 25(2), 253-256. https://doi.org/10.1038/ejhg.2016.149

Vancouver

Hu H, Hübner C, Lukacs Z, Musante L, Gill E, Wienker TF et al. Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). EUR J HUM GENET. 2017 Feb;25(2):253-256. https://doi.org/10.1038/ejhg.2016.149

Bibtex

@article{c60046bf58654428b8ce17535b8dc2ca,
title = "Kl{\"u}ver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)",
abstract = "Kl{\"u}ver-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-α-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:α-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.",
keywords = "Acetyltransferases, Child, Exome, Female, Genes, Recessive, Homozygote, Humans, Kluver-Bucy Syndrome, Male, Mucopolysaccharidosis III, Phenotype, Siblings, Case Reports, Journal Article, Research Support, Non-U.S. Gov't",
author = "Hao Hu and Christoph H{\"u}bner and Zoltan Lukacs and Luciana Musante and Esther Gill and Wienker, {Thomas F} and Hans-Hilger Ropers and Ellen Knierim and Markus Schuelke",
year = "2017",
month = feb,
doi = "10.1038/ejhg.2016.149",
language = "English",
volume = "25",
pages = "253--256",
journal = "EUR J HUM GENET",
issn = "1018-4813",
publisher = "NATURE PUBLISHING GROUP",
number = "2",

}

RIS

TY - JOUR

T1 - Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

AU - Hu, Hao

AU - Hübner, Christoph

AU - Lukacs, Zoltan

AU - Musante, Luciana

AU - Gill, Esther

AU - Wienker, Thomas F

AU - Ropers, Hans-Hilger

AU - Knierim, Ellen

AU - Schuelke, Markus

PY - 2017/2

Y1 - 2017/2

N2 - Klüver-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-α-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:α-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.

AB - Klüver-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-α-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:α-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.

KW - Acetyltransferases

KW - Child

KW - Exome

KW - Female

KW - Genes, Recessive

KW - Homozygote

KW - Humans

KW - Kluver-Bucy Syndrome

KW - Male

KW - Mucopolysaccharidosis III

KW - Phenotype

KW - Siblings

KW - Case Reports

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1038/ejhg.2016.149

DO - 10.1038/ejhg.2016.149

M3 - SCORING: Journal article

C2 - 27827379

VL - 25

SP - 253

EP - 256

JO - EUR J HUM GENET

JF - EUR J HUM GENET

SN - 1018-4813

IS - 2

ER -