Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia

Silvana van Koningsbruggen; Hennie Knoester; Roel Bakx; Olaf Mook; Lia Knegt; Jan Maarten Cobben

doi:https://doi.org/10.1002/ajmg.a.37453

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia

Silvana van Koningsbruggen, Hennie Knoester, Roel Bakx, Olaf Mook, Lia Knegt, Jan Maarten Cobben

Research output: Contribution to journal › Article › Academic › peer-review

15 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	510-514
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.37453
Publication status	Published - 1 Feb 2016

Keywords

Desbuquois dysplasia
Skeletal dysplasia
XYLT1

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abstract = "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.",

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AU - Knoester, Hennie

AU - Bakx, Roel

AU - Mook, Olaf

AU - Knegt, Lia

AU - Cobben, Jan Maarten

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Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia

Abstract

Keywords

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