XYLT1 Mutations in Desbuquois Dysplasia Type 2

• Published in: American journal of human genetics Vol. 94; no. 3; pp. 405 - 414
• Main Authors: Bui, Catherine, Huber, Céline, Tuysuz, Beyhan, Alanay, Yasemin, Bole-Feysot, Christine, Leroy, Jules G., Mortier, Geert, Nitschke, Patrick, Munnich, Arnold, Cormier-Daire, Valérie
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 06.03.2014; Cell Press; Elsevier (Cell Press); Elsevier
• Subjects: Adolescent; Adult; Biochemistry; Biochemistry, Molecular Biology; Biosynthesis; Bone and Bones - metabolism; Cell culture; Child; Consanguinity; Craniofacial Abnormalities - genetics; DNA, Complementary - metabolism; Dwarfism - genetics; Exome; Female; Fibroblasts - metabolism; Genes; Genetic disorders; Genetic Predisposition to Disease; Genetics; Homozygote; Human genetics; Humans; Joint Instability - genetics; Life Sciences; Male; Microsatellite Repeats - genetics; Mutation; Ossification, Heterotopic - genetics; Pentosyltransferases - genetics; Pentosyltransferases - metabolism; Polydactyly - genetics; Proteoglycans - metabolism; Sequence Analysis, DNA; UDP Xylose-Protein Xylosyltransferase

Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as resp...