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Intrafamilial variability of XYLT2-related spondyloocular syndrome.

Authors
  • Guleray, Naz1
  • Simsek Kiper, Pelin Ozlem2
  • Utine, Gulen Eda2
  • Boduroglu, Koray3
  • Alikasifoglu, Mehmet3
  • 1 Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: [email protected] , (Turkey)
  • 2 Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. , (Turkey)
  • 3 Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. , (Turkey)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103585–103585
Identifiers
DOI: 10.1016/j.ejmg.2018.11.019
PMID: 30496831
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Spondyloocular syndrome is characterized by generalized osteoporosis, multiple fractures and severe ocular findings. The causative XYLT2 mutations have recently been identified with the use of whole exome sequencing. We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species. This report along with the previous reports demonstrates that variable expressivity may be possible even within the same family. These two siblings with a novel mutation further expand the clinical and mutational spectrum of spondyloocular syndrome. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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