Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)
| Autor: | Markus Schuelke, Zoltan Lukacs, Thomas F. Wienker, Esther Gill, Ellen Knierim, Luciana Musante, Hans-Hilger Ropers, Christoph Hübner, Hao Hu |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Short Report Genes Recessive Biology Klüver–Bucy syndrome Mucopolysaccharidosis III 03 medical and health sciences 0302 clinical medicine Acetyltransferases Genetic linkage Molecular genetics Genetics Lysosomal storage disease medicine Humans Exome Child Genetics (clinical) Mucopolysaccharidosis Type IIIC Siblings Homozygote Cytogenetics medicine.disease Phenotype 030104 developmental biology Kluver-Bucy Syndrome Medical genetics Female 030217 neurology & neurosurgery |
| Zdroj: | European journal of human genetics |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/ejhg.2016.149 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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