title: Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
abstract: Desbuquois dysplasia (DBQD) is an autosomal recessive skeletal disorder characterized by growth retardation, joint laxity, short extremities, and progressive scoliosis. DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities. CANT1 mutations have been reported in both DBQD1 and DBQD2. Recently, mutations in the gene encoding xylosyltransferase 1 (XYLT1) were identified in several families with DBQD2. In this study, we performed whole-exome sequencing in two Turkish families with DBQD2. We found a novel and a recurrent XYLT1 mutation in each family. The patients were homozygous for the mutations. Our results further support that XYLT1 is responsible for a major subset of DBQD2.
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
authors.forename: Long
authors.initials: L
authors.lastname: Guo
authors.affiliation: Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
authors.forename: Nursel H
authors.initials: NH
authors.lastname: Elcioglu
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
authors.forename: Aritoshi
authors.initials: A
authors.lastname: Iida
authors.affiliation: Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
authors.forename: Yasemin K
authors.initials: YK
authors.lastname: Demirkol
authors.affiliation: Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
authors.forename: Seda
authors.initials: S
authors.lastname: Aras
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000378:metabolism; D055036:Campomelic Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002648:Child; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D059472:Exome; D005190:Family; D005260:Female; D015870:Gene Expression; D006720:Homozygote; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010430:Pentosyltransferases / Q000235:genetics*; D011859:Radiography; D017422:Sequence Analysis, DNA; D014421:Turkey; D000097608:UDP Xylose-Protein Xylosyltransferase
chemical_list: D010430:Pentosyltransferases; D000097608:UDP Xylose-Protein Xylosyltransferase