Literature DB >> 26601923

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

Silvana van Koningsbruggen1, Hennie Knoester2, Roel Bakx3, Olaf Mook1, Lia Knegt1, Jan Maarten Cobben4.   

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.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  Desbuquois dysplasia; XYLT1; skeletal dysplasia

Mesh：

Substances：

Year:  2015        PMID： 26601923     DOI： 10.1002/ajmg.a.37453

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  6 in total

1.  GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Authors:  Amy J LaCroix; Deborah Stabley; Rebecca Sahraoui; Margaret P Adam; Michele Mehaffey; Kelly Kernan; Candace T Myers; Carrie Fagerstrom; George Anadiotis; Yassmine M Akkari; Katherine M Robbins; Karen W Gripp; Wagner A R Baratela; Michael B Bober; Angela L Duker; Dan Doherty; Jennifer C Dempsey; Daniel G Miller; Martin Kircher; Michael J Bamshad; Deborah A Nickerson; Heather C Mefford; Katia Sol-Church
Journal:  Am J Hum Genet       Date:  2018-12-13       Impact factor: 11.025

2.  First Characterization of Human Dermal Fibroblasts Showing a Decreased Xylosyltransferase-I Expression Induced by the CRISPR/Cas9 System.

Authors:  Bastian Fischer; Vanessa Schmidt; Thanh-Diep Ly; Anika Kleine; Cornelius Knabbe; Isabel Faust-Hinse
Journal:  Int J Mol Sci       Date:  2022-05-02       Impact factor: 6.208

Review 3.  The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Authors:  Marlies Colman; Tim Van Damme; Elisabeth Steichen-Gersdorf; Franco Laccone; Sheela Nampoothiri; Delfien Syx; Brecht Guillemyn; Sofie Symoens; Fransiska Malfait
Journal:  Orphanet J Rare Dis       Date:  2019-06-13       Impact factor: 4.123

Review 4.  Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Authors:  Marco Ritelli; Valeria Cinquina; Edoardo Giacopuzzi; Marina Venturini; Nicola Chiarelli; Marina Colombi
Journal:  Genes (Basel)       Date:  2019-08-21       Impact factor: 4.096

5.  Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Authors:  Stefano Giuseppe Caraffi; Ilenia Maini; Ivan Ivanovski; Marzia Pollazzon; Sara Giangiobbe; Maurizia Valli; Antonio Rossi; Silvia Sassi; Silvia Faccioli; Maja Di Rocco; Cinzia Magnani; Belinda Campos-Xavier; Sheila Unger; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2019-10-12       Impact factor: 4.096

6.  Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.

Authors:  Fatemeh Rajabi; Ali Hosseini Bereshneh; Mahboubeh Ramezanzadeh; Masoud Garshasbi
Journal:  BMC Pediatr       Date:  2022-01-26       Impact factor: 2.125
  6 in total

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