title: Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
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.
authors.affiliation: Department of Medical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
authors.forename: Silvana
authors.initials: S
authors.lastname: van Koningsbruggen
authors.affiliation: Department of Pediatric Intensive Care Medicine, Emma Childrens Hospital, AMC University Hospital, Amsterdam, The Netherlands.
authors.forename: Hennie
authors.initials: H
authors.lastname: Knoester
authors.affiliation: Department of Pediatric Surgery, Pediatric Surgical Center, Amsterdam, The Netherlands.
authors.forename: Roel
authors.initials: R
authors.lastname: Bakx
authors.affiliation: Department of Medical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
authors.forename: Olaf
authors.initials: O
authors.lastname: Mook
authors.affiliation: Department of Medical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
authors.forename: Lia
authors.initials: L
authors.lastname: Knegt
authors.affiliation: Department of Pediatric Genetics, AMC University Hospital, Amsterdam, The Netherlands.
authors.forename: Jan Maarten
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D005121:Extremities / Q000196:embryology* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D010430:Pentosyltransferases / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D000097608:UDP Xylose-Protein Xylosyltransferase
chemical_list: D010430:Pentosyltransferases; D000097608:UDP Xylose-Protein Xylosyltransferase
keywords: Desbuquois dysplasia; XYLT1; skeletal dysplasia