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Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia
Author(s) -
van Koningsbruggen Silvana,
Knoester Hennie,
Bakx Roel,
Mook Olaf,
Knegt Lia,
Cobben Jan Maarten
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37453
Subject(s) - dysplasia , medicine , pediatrics , physical medicine and rehabilitation
We report on a boy with a neonatal short limb skeletal dysplasia with serious medical complications, associated with one intragenic and one complete deletion of XYLT1 . XYLT1 mutations have recently been reported as causative in recessive Desbuquois skeletal dysplasia (DBSD), but the skeletal features in our patient do not fit this diagnosis. It is possible that the phenotype of XYLT1 mutations extends to more aspecific types of short limb skeletal dysplasias and not to DBSD alone. © 2015 Wiley Periodicals, Inc.