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Umair, M. ; Eckstein, G.N. ; Rudolph, G.* ; Strom, T.M. ; Graf, E. ; Hendig, D.* ; Hoover, J.* ; Alanay, J.* ; Meitinger, T. ; Schmidt, H.* ; Ahmad, W.*

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Clin. Genet. 93, 913-918 (2017)
Postprint Forschungsdaten DOI PMC
Open Access Green
Spondyloocular syndrome (SOS) is a rare autosomal recessive, skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the XYLT2 gene with pleiotropic effects in multiple organs, including retina, heart muscle, inner ear, cartilage, and bone. The XYLT2 gene encodes xylosyltransferase 2, which catalyzes the transfer of xylose (monosaccharide) to the core protein of proteoglycans (PGs) leading to initiating the process of PG assembly. SOS was originally characterized in 2 families A and B of Iraqi and Turkish origin, respectively. Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C>T, p.Arg387Trp) and (c.2548G>C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene. In addition, this report has extended the phenotypic description of SOS by adding follow-up data from 5 affected individuals in one of the two families, presented here.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Missense Variants ; Skeletal Dysplasia ; Sos ; Spondyloocular Syndrome ; Wes ; Xylt2; Chondroitin Sulfate; Ocular Syndrome; Xylosyltransferase-ii; Retinal-detachment; Heparan-sulfate; Biosynthesis; Mutations; Proteoglycans; Osteoporosis; Cataract
Sprache
Veröffentlichungsjahr 2017
HGF-Berichtsjahr 2017
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Zeitschrift Clinical Genetics
Quellenangaben Band: 93, Heft: 4, Seiten: 913-918 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort Hoboken
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
DOI 10.1111/cge.13179
WOS ID WOS:000427471000022
Scopus ID 85042155788
PubMed ID 29136277
Erfassungsdatum 2017-11-22
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