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A previously identified missense mutation in STYXL1 is likely benign.

Authors
  • Hengel, Holger1
  • Schelling, Yvonne2
  • Keimer, Reinhard3
  • Deigendesch, Werner3
  • Bauer, Peter4
  • Schöls, Ludger5
  • 1 Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. , (Germany)
  • 2 Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. , (Germany)
  • 3 Caritas Baby Hospital, Bethlehem, Palestine. , (Palestinian Territories)
  • 4 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. , (Germany)
  • 5 Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: [email protected] , (Germany)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103582–103582
Identifiers
DOI: 10.1016/j.ejmg.2018.11.016
PMID: 30472486
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Based on a homozygous missense variant p.Pro311Ala found in three siblings of a consanguineous family, mutations in the STYXL1 gene were suggested to cause moderate intellectual disability, epilepsy and complex behavioural abnormalities. We have detected this variant via whole exome sequencing in a homozygous state in two families. Segregation analyses in our families and thorough validation in international genetic databases provides evidence that this variant is most likely benign. This is important information for genetic counselling. The role of STYXL1 variants in human disease needs to be established. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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